Summary

Summary {data-width=650}

Manhattan plot

manhattan_plot

manhattan_plot

QQ plot

qq_plot

qq_plot

AF plot

af_plot

af_plot

P-Z plot

pz_plot

pz_plot

beta_std plot

beta_std_plot

beta_std_plot

Metadata

{
    "fileformat": "VCFv4.2",
    "FILTER": "<ID=PASS,Description=\"All filters passed\">",
    "INFO": "<ID=AF,Number=A,Type=Float,Description=\"Allele Frequency\">",
    "FORMAT": "<ID=ES,Number=A,Type=Float,Description=\"Effect size estimate relative to the alternative allele\">",
    "FORMAT.1": "<ID=SE,Number=A,Type=Float,Description=\"Standard error of effect size estimate\">",
    "FORMAT.2": "<ID=LP,Number=A,Type=Float,Description=\"-log10 p-value for effect estimate\">",
    "FORMAT.3": "<ID=AF,Number=A,Type=Float,Description=\"Alternate allele frequency in the association study\">",
    "FORMAT.4": "<ID=SS,Number=A,Type=Float,Description=\"Sample size used to estimate genetic effect\">",
    "FORMAT.5": "<ID=EZ,Number=A,Type=Float,Description=\"Z-score provided if it was used to derive the EFFECT and SE fields\">",
    "FORMAT.6": "<ID=SI,Number=A,Type=Float,Description=\"Accuracy score of summary data imputation\">",
    "FORMAT.7": "<ID=NC,Number=A,Type=Float,Description=\"Number of cases used to estimate genetic effect\">",
    "FORMAT.8": "<ID=ID,Number=1,Type=String,Description=\"Study variant identifier\">",
    "META": "<ID=TotalVariants,Number=1,Type=Integer,Description=\"Total number of variants in input\">",
    "META.1": "<ID=VariantsNotRead,Number=1,Type=Integer,Description=\"Number of variants that could not be read\">",
    "META.2": "<ID=HarmonisedVariants,Number=1,Type=Integer,Description=\"Total number of harmonised variants\">",
    "META.3": "<ID=VariantsNotHarmonised,Number=1,Type=Integer,Description=\"Total number of variants that could not be harmonised\">",
    "META.4": "<ID=SwitchedAlleles,Number=1,Type=Integer,Description=\"Total number of variants strand switched\">",
    "META.5": "<ID=TotalControls,Number=1,Type=Integer,Description=\"Total number of controls in the association study\">",
    "META.6": "<ID=TotalCases,Number=1,Type=Integer,Description=\"Total number of cases in the association study\">",
    "META.7": "<ID=StudyType,Number=1,Type=String,Description=\"Type of GWAS study [Continuous or CaseControl]\">",
    "SAMPLE": "<ID=ukb-d-20553_5,TotalVariants=10859071,VariantsNotRead=0,HarmonisedVariants=10859071,VariantsNotHarmonised=0,SwitchedAlleles=219,StudyType=Continuous>",
    "contig": "<ID=1,length=249250621,assembly=HG19/GRCh37>",
    "contig.1": "<ID=2,length=243199373,assembly=HG19/GRCh37>",
    "contig.2": "<ID=3,length=198022430,assembly=HG19/GRCh37>",
    "contig.3": "<ID=4,length=191154276,assembly=HG19/GRCh37>",
    "contig.4": "<ID=5,length=180915260,assembly=HG19/GRCh37>",
    "contig.5": "<ID=6,length=171115067,assembly=HG19/GRCh37>",
    "contig.6": "<ID=7,length=159138663,assembly=HG19/GRCh37>",
    "contig.7": "<ID=8,length=146364022,assembly=HG19/GRCh37>",
    "contig.8": "<ID=9,length=141213431,assembly=HG19/GRCh37>",
    "contig.9": "<ID=10,length=135534747,assembly=HG19/GRCh37>",
    "contig.10": "<ID=11,length=135006516,assembly=HG19/GRCh37>",
    "contig.11": "<ID=12,length=133851895,assembly=HG19/GRCh37>",
    "contig.12": "<ID=13,length=115169878,assembly=HG19/GRCh37>",
    "contig.13": "<ID=14,length=107349540,assembly=HG19/GRCh37>",
    "contig.14": "<ID=15,length=102531392,assembly=HG19/GRCh37>",
    "contig.15": "<ID=16,length=90354753,assembly=HG19/GRCh37>",
    "contig.16": "<ID=17,length=81195210,assembly=HG19/GRCh37>",
    "contig.17": "<ID=18,length=78077248,assembly=HG19/GRCh37>",
    "contig.18": "<ID=19,length=59128983,assembly=HG19/GRCh37>",
    "contig.19": "<ID=20,length=63025520,assembly=HG19/GRCh37>",
    "contig.20": "<ID=21,length=48129895,assembly=HG19/GRCh37>",
    "contig.21": "<ID=22,length=51304566,assembly=HG19/GRCh37>",
    "contig.22": "<ID=X,length=155270560,assembly=HG19/GRCh37>",
    "contig.23": "<ID=Y,length=59373566,assembly=HG19/GRCh37>",
    "contig.24": "<ID=MT,length=16569,assembly=HG19/GRCh37>",
    "contig.25": "<ID=GL000207.1,length=4262,assembly=HG19/GRCh37>",
    "contig.26": "<ID=GL000226.1,length=15008,assembly=HG19/GRCh37>",
    "contig.27": "<ID=GL000229.1,length=19913,assembly=HG19/GRCh37>",
    "contig.28": "<ID=GL000231.1,length=27386,assembly=HG19/GRCh37>",
    "contig.29": "<ID=GL000210.1,length=27682,assembly=HG19/GRCh37>",
    "contig.30": "<ID=GL000239.1,length=33824,assembly=HG19/GRCh37>",
    "contig.31": "<ID=GL000235.1,length=34474,assembly=HG19/GRCh37>",
    "contig.32": "<ID=GL000201.1,length=36148,assembly=HG19/GRCh37>",
    "contig.33": "<ID=GL000247.1,length=36422,assembly=HG19/GRCh37>",
    "contig.34": "<ID=GL000245.1,length=36651,assembly=HG19/GRCh37>",
    "contig.35": "<ID=GL000197.1,length=37175,assembly=HG19/GRCh37>",
    "contig.36": "<ID=GL000203.1,length=37498,assembly=HG19/GRCh37>",
    "contig.37": "<ID=GL000246.1,length=38154,assembly=HG19/GRCh37>",
    "contig.38": "<ID=GL000249.1,length=38502,assembly=HG19/GRCh37>",
    "contig.39": "<ID=GL000196.1,length=38914,assembly=HG19/GRCh37>",
    "contig.40": "<ID=GL000248.1,length=39786,assembly=HG19/GRCh37>",
    "contig.41": "<ID=GL000244.1,length=39929,assembly=HG19/GRCh37>",
    "contig.42": "<ID=GL000238.1,length=39939,assembly=HG19/GRCh37>",
    "contig.43": "<ID=GL000202.1,length=40103,assembly=HG19/GRCh37>",
    "contig.44": "<ID=GL000234.1,length=40531,assembly=HG19/GRCh37>",
    "contig.45": "<ID=GL000232.1,length=40652,assembly=HG19/GRCh37>",
    "contig.46": "<ID=GL000206.1,length=41001,assembly=HG19/GRCh37>",
    "contig.47": "<ID=GL000240.1,length=41933,assembly=HG19/GRCh37>",
    "contig.48": "<ID=GL000236.1,length=41934,assembly=HG19/GRCh37>",
    "contig.49": "<ID=GL000241.1,length=42152,assembly=HG19/GRCh37>",
    "contig.50": "<ID=GL000243.1,length=43341,assembly=HG19/GRCh37>",
    "contig.51": "<ID=GL000242.1,length=43523,assembly=HG19/GRCh37>",
    "contig.52": "<ID=GL000230.1,length=43691,assembly=HG19/GRCh37>",
    "contig.53": "<ID=GL000237.1,length=45867,assembly=HG19/GRCh37>",
    "contig.54": "<ID=GL000233.1,length=45941,assembly=HG19/GRCh37>",
    "contig.55": "<ID=GL000204.1,length=81310,assembly=HG19/GRCh37>",
    "contig.56": "<ID=GL000198.1,length=90085,assembly=HG19/GRCh37>",
    "contig.57": "<ID=GL000208.1,length=92689,assembly=HG19/GRCh37>",
    "contig.58": "<ID=GL000191.1,length=106433,assembly=HG19/GRCh37>",
    "contig.59": "<ID=GL000227.1,length=128374,assembly=HG19/GRCh37>",
    "contig.60": "<ID=GL000228.1,length=129120,assembly=HG19/GRCh37>",
    "contig.61": "<ID=GL000214.1,length=137718,assembly=HG19/GRCh37>",
    "contig.62": "<ID=GL000221.1,length=155397,assembly=HG19/GRCh37>",
    "contig.63": "<ID=GL000209.1,length=159169,assembly=HG19/GRCh37>",
    "contig.64": "<ID=GL000218.1,length=161147,assembly=HG19/GRCh37>",
    "contig.65": "<ID=GL000220.1,length=161802,assembly=HG19/GRCh37>",
    "contig.66": "<ID=GL000213.1,length=164239,assembly=HG19/GRCh37>",
    "contig.67": "<ID=GL000211.1,length=166566,assembly=HG19/GRCh37>",
    "contig.68": "<ID=GL000199.1,length=169874,assembly=HG19/GRCh37>",
    "contig.69": "<ID=GL000217.1,length=172149,assembly=HG19/GRCh37>",
    "contig.70": "<ID=GL000216.1,length=172294,assembly=HG19/GRCh37>",
    "contig.71": "<ID=GL000215.1,length=172545,assembly=HG19/GRCh37>",
    "contig.72": "<ID=GL000205.1,length=174588,assembly=HG19/GRCh37>",
    "contig.73": "<ID=GL000219.1,length=179198,assembly=HG19/GRCh37>",
    "contig.74": "<ID=GL000224.1,length=179693,assembly=HG19/GRCh37>",
    "contig.75": "<ID=GL000223.1,length=180455,assembly=HG19/GRCh37>",
    "contig.76": "<ID=GL000195.1,length=182896,assembly=HG19/GRCh37>",
    "contig.77": "<ID=GL000212.1,length=186858,assembly=HG19/GRCh37>",
    "contig.78": "<ID=GL000222.1,length=186861,assembly=HG19/GRCh37>",
    "contig.79": "<ID=GL000200.1,length=187035,assembly=HG19/GRCh37>",
    "contig.80": "<ID=GL000193.1,length=189789,assembly=HG19/GRCh37>",
    "contig.81": "<ID=GL000194.1,length=191469,assembly=HG19/GRCh37>",
    "contig.82": "<ID=GL000225.1,length=211173,assembly=HG19/GRCh37>",
    "contig.83": "<ID=GL000192.1,length=547496,assembly=HG19/GRCh37>",
    "gwas_harmonisation_command": "--json /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20553_5/ukb-d-20553_5_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
    "file_date": "2019-11-25T15:14:19.043511",
    "bcftools_annotateVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
    "bcftools_annotateCommand": "annotate -a /mnt/storage/home/gh13047/mr-eve/vcf-reference-datasets/dbsnp/dbsnp.v153.b37.vcf.gz -c ID -o /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20553_5/ukb-d-20553_5.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20553_5/ukb-d-20553_5_data.vcf.gz; Date=Mon Nov 25 15:38:20 2019",
    "bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
    "bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukb-d-20553_5/ukb-d-20553_5.vcf.gz; Date=Sat May  9 19:36:23 2020"
}

LDSC

*********************************************************************
* LD Score Regression (LDSC)
* Version 1.0.1
* (C) 2014-2019 Brendan Bulik-Sullivan and Hilary Finucane
* Broad Institute of MIT and Harvard / MIT Department of Mathematics
* GNU General Public License v3
*********************************************************************
Call: 
./ldsc.py \
--h2 /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20553_5/ukb-d-20553_5.vcf.gz \
--ref-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ \
--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20553_5/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ 

Beginning analysis at Mon Nov 25 16:49:12 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20553_5/ukb-d-20553_5.vcf.gz ...
Read summary statistics for 10859071 SNPs.
Dropped 8871 SNPs with duplicated rs numbers.
Reading reference panel LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read reference panel LD Scores for 1290028 SNPs.
Removing partitioned LD Scores with zero variance.
Reading regression weight LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1281672 SNPs remain.
After merging with regression SNP LD, 1281672 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0074 (0.0038)
Lambda GC: 1.0214
Mean Chi^2: 1.0228
Intercept: 1.0056 (0.0063)
Ratio: 0.2453 (0.2745)
Analysis finished at Mon Nov 25 16:50:46 2019
Total time elapsed: 1.0m:34.19s

QC metrics

Metrics

Metrics

{
    "af_correlation": 0.9454,
    "inflation_factor": 1.0159,
    "mean_EFFECT": 3.8898e-06,
    "n": 117733,
    "n_snps": 10859071,
    "n_clumped_hits": 3,
    "n_p_sig": 7,
    "n_mono": 0,
    "n_ns": 1130923,
    "n_mac": 0,
    "is_snpid_unique": false,
    "n_miss_EFFECT": 0,
    "n_miss_SE": 0,
    "n_miss_PVAL": 0,
    "n_miss_AF": 0,
    "n_miss_AF_reference": 215550,
    "n_est": 117919.9355,
    "ratio_se_n": 1.0008,
    "mean_diff": 0,
    "ratio_diff": 83.7406,
    "sd_y_est1": 0.1448,
    "sd_y_est2": 0.1449,
    "r2_sum1": 0,
    "r2_sum2": 0.0009,
    "r2_sum3": 0.0009,
    "r2_sum4": 0.0008,
    "ldsc_nsnp_merge_refpanel_ld": 1281672,
    "ldsc_nsnp_merge_regression_ld": 1281672,
    "ldsc_observed_scale_h2_beta": 0.0074,
    "ldsc_observed_scale_h2_se": 0.0038,
    "ldsc_intercept_beta": 1.0056,
    "ldsc_intercept_se": 0.0063,
    "ldsc_lambda_gc": 1.0214,
    "ldsc_mean_chisq": 1.0228,
    "ldsc_ratio": 0.2456
}

Flags

name value
af_correlation FALSE
inflation_factor FALSE
n FALSE
is_snpid_non_unique TRUE
mean_EFFECT_nonfinite FALSE
mean_EFFECT_05 FALSE
mean_EFFECT_01 FALSE
mean_chisq FALSE
n_p_sig FALSE
miss_EFFECT FALSE
miss_SE FALSE
miss_PVAL FALSE
ldsc_ratio FALSE
ldsc_intercept_beta FALSE
n_clumped_hits FALSE
r2_sum1 FALSE
r2_sum2 FALSE
r2_sum3 FALSE
r2_sum4 FALSE

Definitions

General metrics

  • af_correlation: Correlation coefficient between AF and AF_reference.
  • inflation_factor (lambda): Genomic inflation factor.
  • mean_EFFECT: Mean of EFFECT size.
  • n: Maximum value of reported sample size across all SNPs, \(n\).
  • n_clumped_hits: Number of clumped hits.
  • n_snps: Number of SNPs
  • n_p_sig: Number of SNPs with pvalue below 5e-8.
  • n_mono: Number of monomorphic (MAF == 1 or MAF == 0) SNPs.
  • n_ns: Number of SNPs with nonsense values:
    • alleles other than A, C, G or T.
    • P-values < 0 or > 1.
    • negative or infinite standard errors (<= 0 or = Infinity).
    • infinite beta estimates or allele frequencies < 0 or > 1.
  • n_mac: Number of cases where MAC (\(2 \times N \times MAF\)) is less than 6.
  • is_snpid_unique: true if the combination of ID REF ALT is unique and therefore no duplication in snpid.
  • n_miss_<*>: Number of NA observations for <*> column.

se_n metrics

  • n_est: Estimated sample size value, \(\widehat{n}\).
  • ratio_se_n: \(\texttt{ratio_se_n} = \frac{\sqrt{\widehat{n}}}{\sqrt{n}}\). We expect ratio_se_n to be 1. When it is not 1, it implies that the trait did not have a variance of 1, the reported sample size is wrong, or that the SNP-level effective sample sizes differ markedly from the reported sample size.
  • mean_diff: \(\texttt{mean_diff} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta_j}{\texttt{n_snps}}\), mean difference between the standardised beta, predicted from P-values, and the observed beta. The difference should be very close to zero if trait has a variance of 1.
    • \(\widehat{\beta_j^{std}} = \sqrt{\frac{{z}_j^2 / ({z}_j^2 + n -2)}{2 \times {MAF}_j \times (1 - {MAF}_j)}} \times sign({z}_j)\),
    • \({z}_j = \frac{\beta_j}{{se}_j}\),
    • and \(\beta_j\) is the reported effect size.
  • ratio_diff: \(\texttt{ratio_diff} = |\frac{\texttt{mean_diff}}{\texttt{mean_diff2}}|\), absolute ratio between the mean of diff and the mean of diff2 (expected difference between the standardised beta predicted from P-values, and the standardised beta derived from the observed beta divided by the predicted SD; NOT reported). The ratio should be close to 1. If different from 1, then implies that the betas are not in a standard deviation scale.
    • \(\texttt{mean_diff2} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta^{\prime}_j}{\texttt{n_snps}}\)
    • \(\beta^{\prime}_j = \frac{\beta_j}{\widehat{\texttt{sd2}}_{y}}\)
  • sd_y_est1: The standard deviation for the trait inferred from the reported sample size, median standard errors for the SNP-trait assocations and SNP variances.
    • \(\widehat{\texttt{sd1}}_{y} = \frac{\sqrt{n} \times median({se}_j)}{C}\),
    • \(C = median(\frac{1}{\sqrt{2 \times {MAF}_j \times (1 - {MAF}_j)}})\),
    • and \({se}_j\) is the reported standard error.
  • sd_y_est2: The standard deviation for the trait inferred from the reported sample size, Z statistics for the SNP-trait effects (beta/se) and allele frequency.
    • \(\widehat{\texttt{sd2}}_{y} = median(\widehat{sd_j})\),
    • \(\widehat{sd_j} = \frac{\beta_j}{\widehat{\beta_j^{std}}}\),

r2 metrics

Sum of variance explained, calculated from the clumped top hits sample.

  • r2_sum<*>: r2 statistics under various assumptions
    • 1: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var1}}}\), \(\texttt{var1} = 1\).
    • 2: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var2}}}\), \(\texttt{var2} = {\widehat{\texttt{sd1}}_{y}}^2\),
    • 3: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var3}}}\), \(\texttt{var3} = {\widehat{\texttt{sd2}}_{y}}^2\),
    • 4: \(r^2 = \sum_j{\frac{F_j}{F_j + n - 2}}\), \(F = \frac{\beta_j^2}{{se}_j^2}\).

LDSC metrics

Metrics from LD regression

  • ldsc_nsnp_merge_refpanel_ld: Number of remaining SNPs after merging with reference panel LD.
  • ldsc_nsnp_merge_regression_ld: Number of remaining SNPs after merging with regression SNP LD.
  • ldsc_observed_scale_h2_{beta,se} Coefficient value and SE for total observed scale h2.
  • ldsc_intercept_{beta,se}: Coefficient value and SE for intercept. Intercept is expected to be 1.
  • ldsc_lambda_gc: Lambda GC statistics.
  • ldsc_mean_chisq: Mean \(\chi^2\) statistics.
  • ldsc_ratio: \(\frac{\texttt{ldsc_intercept_beta} - 1}{\texttt{ldsc_mean_chisq} - 1}\), the proportion of the inflation in the mean \(\chi^2\) that the LD Score regression intercepts ascribes to causes other than polygenic heritability. The value of ratio should be close to zero, though in practice values of 0.1-0.2 are not uncommon, probably due to sample/reference LD Score mismatch or model misspecification (e.g., low LD variants have slightly higher \(h^2\) per SNP).

Flags

When a metric needs attention, the flag should return TRUE.

  • af_correlation: abs(af_correlation) < 0.7.
  • inflation_factor: inflation_factor > 1.2.
  • n: n (max reported sample size) < 10000.
  • is_snpid_non_unique: NOT is_snpid_unique.
  • mean_EFFECT_nonfinite: mean(EFFECT) is NA, NaN, or Inf.
  • mean_EFFECT_05: abs(mean(EFFECT)) > 0.5.
  • mean_EFFECT_01: abs(mean(EFFECT)) > 0.1.
  • mean_chisq: ldsc_mean_chisq > 1.3 or ldsc_mean_chisq < 0.7.
  • n_p_sig: n_p_sig > 1000.
  • miss_<*>: n_miss_<*> / n_snps > 0.01.
  • ldsc_ratio: ldsc_ratio > 0.5
  • ldsc_intercept_beta: ldsc_intercept_beta > 1.5
  • n_clumped_hits: n_clumped_hits > 1000
  • r2_sum<*>: r2_sum<*> > 0.5

Plots

  • Manhattan plot
    • Red line: \(-log_{10}^{5 \times 10^{-8}}\)
    • Blue line: \(-log_{10}^{5 \times 10^{-5}}\)
  • QQ plot
  • AF plot
  • P-Z plot
  • beta_std plot: Scatter plot between \(\widehat{\beta_j^{std}}\) and \(\beta_j\)

Diagnostics

Details

Summary stats

skim_type skim_variable n_missing complete_rate character.min character.max character.empty character.n_unique character.whitespace numeric.mean numeric.sd numeric.p0 numeric.p25 numeric.p50 numeric.p75 numeric.p100 numeric.hist
character ID 0 1.0000000 3 94 0 10850782 0 NA NA NA NA NA NA NA NA
character REF 0 1.0000000 1 100 0 50711 0 NA NA NA NA NA NA NA NA
character ALT 0 1.0000000 1 342 0 31163 0 NA NA NA NA NA NA NA NA
numeric CHROM 0 1.0000000 NA NA NA NA NA 9.074378e+00 6.179864e+00 1.00000e+00 4.000000e+00 8.000000e+00 1.300000e+01 2.300000e+01 ▇▅▅▂▂
numeric POS 0 1.0000000 NA NA NA NA NA 7.880680e+07 5.603354e+07 3.02000e+02 3.258306e+07 6.977086e+07 1.147404e+08 2.492309e+08 ▇▆▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA 3.900000e-06 1.774300e-03 -1.61495e-02 -7.259000e-04 -4.300000e-06 7.149000e-04 2.374810e-02 ▁▆▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA 1.442600e-03 1.020800e-03 4.94700e-04 6.692000e-04 9.675000e-04 1.920600e-03 5.862600e-03 ▇▂▁▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA 4.975845e-01 2.894019e-01 0.00000e+00 2.463020e-01 4.966026e-01 7.485451e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA 4.975831e-01 2.894027e-01 0.00000e+00 2.462992e-01 4.966017e-01 7.485446e-01 1.000000e+00 ▇▇▇▇▇
numeric AF 0 1.0000000 NA NA NA NA NA 2.359188e-01 2.620805e-01 4.92520e-03 2.602160e-02 1.226490e-01 3.775780e-01 9.950740e-01 ▇▂▂▁▁
numeric AF_reference 215550 0.9801502 NA NA NA NA NA 2.360221e-01 2.531285e-01 0.00000e+00 2.535940e-02 1.399760e-01 3.755990e-01 1.000000e+00 ▇▂▂▁▁
numeric N 0 1.0000000 NA NA NA NA NA 1.177330e+05 0.000000e+00 1.17733e+05 1.177330e+05 1.177330e+05 1.177330e+05 1.177330e+05 ▁▁▇▁▁

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 692794 rs530212009 CA C -0.0012514 0.0010402 0.2289602 0.2289549 0.1117700 0.1894970 117733
1 693731 rs12238997 A G -0.0003028 0.0009851 0.7585619 0.7585604 0.1167970 0.1417730 117733
1 707522 rs371890604 G C -0.0000031 0.0011052 0.9977320 0.9977319 0.0984203 0.1293930 117733
1 717587 rs144155419 G A -0.0042776 0.0026485 0.1062921 0.1062892 0.0157696 0.0045926 117733
1 730087 rs148120343 T C -0.0010193 0.0013707 0.4570924 0.4570910 0.0569438 0.0127796 117733
1 731718 rs142557973 T C -0.0000516 0.0009347 0.9559430 0.9559430 0.1227180 0.1543530 117733
1 732032 rs61770163 A C -0.0001414 0.0009961 0.8871380 0.8871370 0.1223370 0.1555510 117733
1 734349 rs141242758 T C -0.0001544 0.0009352 0.8688680 0.8688671 0.1219750 0.1525560 117733
1 740284 rs61770167 C T 0.0060443 0.0042735 0.1572501 0.1572474 0.0058525 0.0023962 117733
1 749963 rs529266287 T TAA 0.0007393 0.0009214 0.4223388 0.4223370 0.8689330 0.7641770 117733
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
23 154923311 rs141127553 C T -0.0006184 0.0010992 0.5737306 0.5737277 0.0554864 0.0309934 117733
23 154923374 rs111332691 T A -0.0036675 0.0011982 0.0022075 0.0022070 0.0447750 0.0116556 117733
23 154925045 rs509981 C T 0.0006814 0.0005769 0.2375642 0.2375614 0.2447700 0.3634440 117733
23 154925895 rs538470 C T 0.0006252 0.0005900 0.2892937 0.2892917 0.2412000 0.3634440 117733
23 154927581 rs644138 G A 0.0004430 0.0005429 0.4145081 0.4145065 0.3006190 0.4635760 117733
23 154929412 rs557132 C T 0.0006911 0.0005771 0.2311059 0.2311033 0.2446450 0.3568210 117733
23 154929637 rs35185538 CT C 0.0007573 0.0006029 0.2090860 0.2090829 0.2288480 0.3011920 117733
23 154929952 rs4012982 CAA C 0.0007031 0.0006074 0.2470489 0.2470463 0.2387180 0.3165560 117733
23 154930230 rs781880 A G 0.0006917 0.0005769 0.2305510 0.2305478 0.2450680 0.3618540 117733
23 154930487 rs781879 T A 0.0038302 0.0019608 0.0507797 0.0507779 0.0196901 0.1263580 117733

bcf preview

1   692794  rs530212009 CA  C   .   PASS    AF=0.11177  ES:SE:LP:AF:SS:ID   -0.00125137:0.00104016:0.64024:0.11177:117733:1_692794_CA_C
1   693731  rs12238997  A   G   .   PASS    AF=0.116797 ES:SE:LP:AF:SS:ID   -0.000302791:0.000985097:0.120009:0.116797:117733:rs12238997
1   707522  rs371890604 G   C   .   PASS    AF=0.0984203    ES:SE:LP:AF:SS:ID   -3.14167e-06:0.00110518:0.000986099:0.0984203:117733:rs371890604
1   717587  rs144155419 G   A   .   PASS    AF=0.0157696    ES:SE:LP:AF:SS:ID   -0.00427759:0.0026485:0.973499:0.0157696:117733:rs144155419
1   730087  rs148120343 T   C   .   PASS    AF=0.0569438    ES:SE:LP:AF:SS:ID   -0.0010193:0.00137068:0.339996:0.0569438:117733:rs148120343
1   731718  rs58276399  T   C   .   PASS    AF=0.122718 ES:SE:LP:AF:SS:ID   -5.16372e-05:0.000934688:0.019568:0.122718:117733:rs58276399
1   732032  rs61770163  A   C   .   PASS    AF=0.122337 ES:SE:LP:AF:SS:ID   -0.000141378:0.000996126:0.0520088:0.122337:117733:rs61770163
1   734349  rs141242758 T   C   .   PASS    AF=0.121975 ES:SE:LP:AF:SS:ID   -0.000154396:0.00093518:0.0610462:0.121975:117733:rs141242758
1   740284  rs61770167  C   T   .   PASS    AF=0.00585249   ES:SE:LP:AF:SS:ID   0.00604434:0.00427346:0.803409:0.00585249:117733:rs61770167
1   749963  rs529266287 T   TAA .   PASS    AF=0.868933 ES:SE:LP:AF:SS:ID   0.000739343:0.000921445:0.374339:0.868933:117733:rs529266287
1   751343  rs28544273  T   A   .   PASS    AF=0.123766 ES:SE:LP:AF:SS:ID   -0.000569104:0.000912961:0.273233:0.123766:117733:rs28544273
1   751488  rs200141114 G   GA  .   PASS    AF=0.1434   ES:SE:LP:AF:SS:ID   -0.000471687:0.000902954:0.220833:0.1434:117733:rs200141114
1   751756  rs28527770  T   C   .   PASS    AF=0.123888 ES:SE:LP:AF:SS:ID   -0.000541418:0.000911697:0.257583:0.123888:117733:rs28527770
1   753405  rs3115860   C   A   .   PASS    AF=0.869714 ES:SE:LP:AF:SS:ID   0.000419893:0.000887917:0.196346:0.869714:117733:rs3115860
1   753425  rs3131970   T   C   .   PASS    AF=0.874485 ES:SE:LP:AF:SS:ID   0.000379504:0.000902796:0.171199:0.874485:117733:rs3131970
1   753541  rs2073813   G   A   .   PASS    AF=0.129745 ES:SE:LP:AF:SS:ID   -0.0003549:0.000890404:0.161024:0.129745:117733:rs2073813
1   754105  rs12184325  C   T   .   PASS    AF=0.0365403    ES:SE:LP:AF:SS:ID   0.000474241:0.00161714:0.113891:0.0365403:117733:rs12184325
1   754182  rs3131969   A   G   .   PASS    AF=0.869307 ES:SE:LP:AF:SS:ID   0.000319013:0.000887073:0.143193:0.869307:117733:rs3131969
1   754192  rs3131968   A   G   .   PASS    AF=0.869378 ES:SE:LP:AF:SS:ID   0.000303797:0.000887402:0.135434:0.869378:117733:rs3131968
1   754334  rs3131967   T   C   .   PASS    AF=0.869306 ES:SE:LP:AF:SS:ID   0.000316852:0.00088705:0.142098:0.869306:117733:rs3131967
1   754433  rs150578204 G   A   .   PASS    AF=0.00512554   ES:SE:LP:AF:SS:ID   -0.00632224:0.00453393:0.787304:0.00512554:117733:rs150578204
1   754458  rs142682604 G   T   .   PASS    AF=0.00509458   ES:SE:LP:AF:SS:ID   -0.00630731:0.00454393:0.782208:0.00509458:117733:rs142682604
1   755435  rs184270342 T   G   .   PASS    AF=0.00567973   ES:SE:LP:AF:SS:ID   -0.00177164:0.00437766:0.163866:0.00567973:117733:rs184270342
1   755890  rs3115858   A   T   .   PASS    AF=0.86938  ES:SE:LP:AF:SS:ID   0.000436457:0.000885416:0.206171:0.86938:117733:rs3115858
1   756434  rs61768170  G   C   .   PASS    AF=0.127028 ES:SE:LP:AF:SS:ID   -0.000686867:0.000903777:0.349442:0.127028:117733:rs61768170
1   756604  rs3131962   A   G   .   PASS    AF=0.868903 ES:SE:LP:AF:SS:ID   0.000480876:0.000883094:0.232048:0.868903:117733:rs3131962
1   757640  rs3115853   G   A   .   PASS    AF=0.868299 ES:SE:LP:AF:SS:ID   0.000344004:0.000882751:0.156916:0.868299:117733:rs3115853
1   757734  rs4951929   C   T   .   PASS    AF=0.869089 ES:SE:LP:AF:SS:ID   0.000466384:0.000883965:0.223462:0.869089:117733:rs4951929
1   757936  rs4951862   C   A   .   PASS    AF=0.869096 ES:SE:LP:AF:SS:ID   0.000466377:0.000884028:0.22344:0.869096:117733:rs4951862
1   758144  rs3131956   A   G   .   PASS    AF=0.869098 ES:SE:LP:AF:SS:ID   0.000466573:0.000884032:0.22355:0.869098:117733:rs3131956
1   758626  rs3131954   C   T   .   PASS    AF=0.869534 ES:SE:LP:AF:SS:ID   0.000416415:0.000886297:0.194858:0.869534:117733:rs3131954
1   759293  rs10157329  T   A   .   PASS    AF=0.0996366    ES:SE:LP:AF:SS:ID   1.93553e-05:0.00103024:0.00655892:0.0996366:117733:rs10157329
1   759600  rs545998451 AGT A   .   PASS    AF=0.00654064   ES:SE:LP:AF:SS:ID   0.00129099:0.00397262:0.127725:0.00654064:117733:1_759600_AGT_A
1   759837  rs3115851   T   A   .   PASS    AF=0.873583 ES:SE:LP:AF:SS:ID   0.000613672:0.000899837:0.305174:0.873583:117733:rs3115851
1   761732  rs2286139   C   T   .   PASS    AF=0.862878 ES:SE:LP:AF:SS:ID   0.000406596:0.000882523:0.19044:0.862878:117733:rs2286139
1   761752  rs1057213   C   T   .   PASS    AF=0.868273 ES:SE:LP:AF:SS:ID   0.000627108:0.000890994:0.317368:0.868273:117733:rs1057213
1   762273  rs3115849   G   A   .   PASS    AF=0.865286 ES:SE:LP:AF:SS:ID   0.000716271:0.000891115:0.375183:0.865286:117733:rs3115849
1   762485  rs12095200  C   A   .   PASS    AF=0.0998136    ES:SE:LP:AF:SS:ID   -0.000556866:0.00106485:0.22112:0.0998136:117733:rs12095200
1   762589  rs3115848   G   C   .   PASS    AF=0.870572 ES:SE:LP:AF:SS:ID   0.000740791:0.000901621:0.385848:0.870572:117733:rs3115848
1   762592  rs3131950   C   G   .   PASS    AF=0.870572 ES:SE:LP:AF:SS:ID   0.000740793:0.000901621:0.385849:0.870572:117733:rs3131950
1   762601  rs3131949   T   C   .   PASS    AF=0.870571 ES:SE:LP:AF:SS:ID   0.000740326:0.000901623:0.385536:0.870571:117733:rs3131949
1   762632  rs3131948   T   A   .   PASS    AF=0.870892 ES:SE:LP:AF:SS:ID   0.000717078:0.000902004:0.369954:0.870892:117733:rs3131948
1   764191  rs7515915   T   G   .   PASS    AF=0.126623 ES:SE:LP:AF:SS:ID   -0.000716301:0.00090278:0.36904:0.126623:117733:rs7515915
1   766007  rs61768174  A   C   .   PASS    AF=0.106376 ES:SE:LP:AF:SS:ID   0.000136555:0.000981169:0.0509463:0.106376:117733:rs61768174
1   766105  rs2519015   T   A   .   PASS    AF=0.854328 ES:SE:LP:AF:SS:ID   0.000362845:0.000882304:0.166922:0.854328:117733:rs2519015
1   768116  rs376645387 A   AGTTTT  .   PASS    AF=0.839072 ES:SE:LP:AF:SS:ID   -0.00024459:0.000874357:0.108084:0.839072:117733:rs376645387
1   768253  rs2977608   A   C   .   PASS    AF=0.762955 ES:SE:LP:AF:SS:ID   8.65582e-05:0.000700763:0.0449399:0.762955:117733:rs2977608
1   768448  rs12562034  G   A   .   PASS    AF=0.105259 ES:SE:LP:AF:SS:ID   0.000365995:0.000969503:0.15132:0.105259:117733:rs12562034
1   768819  rs12562811  C   T   .   PASS    AF=0.00772744   ES:SE:LP:AF:SS:ID   -0.00141581:0.00358187:0.159491:0.00772744:117733:rs12562811
1   769138  rs59306077  CAT C   .   PASS    AF=0.130028 ES:SE:LP:AF:SS:ID   -0.000679076:0.000889937:0.351222:0.130028:117733:rs762168062