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-22604_1,TotalVariants=13282260,VariantsNotRead=0,HarmonisedVariants=13282260,VariantsNotHarmonised=0,SwitchedAlleles=229,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-22604_1/ukb-d-22604_1_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
    "file_date": "2019-11-25T15:12:54.097548",
    "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-22604_1/ukb-d-22604_1.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-22604_1/ukb-d-22604_1_data.vcf.gz; Date=Mon Nov 25 15:45:24 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-22604_1/ukb-d-22604_1.vcf.gz; Date=Sun May 10 00:55:19 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-22604_1/ukb-d-22604_1.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-22604_1/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 16:36:18 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-22604_1/ukb-d-22604_1.vcf.gz ...
Read summary statistics for 13282260 SNPs.
Dropped 12298 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, 1283452 SNPs remain.
After merging with regression SNP LD, 1283452 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0047 (0.0049)
Lambda GC: 1.008
Mean Chi^2: 1.0096
Intercept: 1.0028 (0.0061)
Ratio: 0.286 (0.6329)
Analysis finished at Mon Nov 25 16:38:18 2019
Total time elapsed: 2.0m:0.23s

QC metrics

Metrics

Metrics

{
    "af_correlation": 0.9516,
    "inflation_factor": 0.9998,
    "mean_EFFECT": -9.3997e-06,
    "n": 75177,
    "n_snps": 13282260,
    "n_clumped_hits": 0,
    "n_p_sig": 0,
    "n_mono": 0,
    "n_ns": 1240967,
    "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": 491570,
    "n_est": 75469.5464,
    "ratio_se_n": 1.0019,
    "mean_diff": -0,
    "ratio_diff": 28.577,
    "sd_y_est1": 0.3336,
    "sd_y_est2": 0.3343,
    "r2_sum1": 0,
    "r2_sum2": 0,
    "r2_sum3": 0,
    "r2_sum4": 0,
    "ldsc_nsnp_merge_refpanel_ld": 1283452,
    "ldsc_nsnp_merge_regression_ld": 1283452,
    "ldsc_observed_scale_h2_beta": 0.0047,
    "ldsc_observed_scale_h2_se": 0.0049,
    "ldsc_intercept_beta": 1.0028,
    "ldsc_intercept_se": 0.0061,
    "ldsc_lambda_gc": 1.008,
    "ldsc_mean_chisq": 1.0096,
    "ldsc_ratio": 0.2917
}

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 13270621 0 NA NA NA NA NA NA NA NA
character REF 0 1.0000000 1 100 0 56461 0 NA NA NA NA NA NA NA NA
character ALT 0 1.0000000 1 342 0 33169 0 NA NA NA NA NA NA NA NA
numeric CHROM 0 1.0000000 NA NA NA NA NA 9.055478e+00 6.185851e+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 7.900101e+07 5.592709e+07 3.02000e+02 3.288331e+07 7.009533e+07 1.148340e+08 2.492309e+08 ▇▆▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA -9.400000e-06 9.302800e-03 -1.00135e-01 -2.602400e-03 -1.960000e-05 2.544400e-03 1.259090e-01 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA 6.782800e-03 6.378200e-03 1.43060e-03 2.043000e-03 3.651200e-03 9.684800e-03 3.458970e-02 ▇▂▁▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA 5.000290e-01 2.884650e-01 1.00000e-07 2.506969e-01 5.000345e-01 7.496352e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA 5.000269e-01 2.884663e-01 1.00000e-07 2.506933e-01 5.000320e-01 7.496351e-01 1.000000e+00 ▇▇▇▇▇
numeric AF 0 1.0000000 NA NA NA NA NA 1.949337e-01 2.554040e-01 1.23940e-03 8.532000e-03 6.523420e-02 3.035040e-01 9.987600e-01 ▇▂▁▁▁
numeric AF_reference 491570 0.9629905 NA NA NA NA NA 1.994382e-01 2.477833e-01 0.00000e+00 6.389800e-03 8.845850e-02 3.140970e-01 1.000000e+00 ▇▂▁▁▁
numeric N 0 1.0000000 NA NA NA NA NA 7.517700e+04 0.000000e+00 7.51770e+04 7.517700e+04 7.517700e+04 7.517700e+04 7.517700e+04 ▁▁▇▁▁

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 692794 rs530212009 CA C -0.0048013 0.0030093 0.1106081 0.1106032 0.1115640 0.1894970 75177
1 693731 rs12238997 A G -0.0034140 0.0028493 0.2308458 0.2308424 0.1164770 0.1417730 75177
1 707522 rs371890604 G C -0.0052878 0.0032024 0.0986984 0.0986937 0.0977849 0.1293930 75177
1 717587 rs144155419 G A -0.0096979 0.0075983 0.2018422 0.2018376 0.0159063 0.0045926 75177
1 723329 rs189787166 A T -0.0046055 0.0222805 0.8362411 0.8362403 0.0017753 0.0003994 75177
1 730087 rs148120343 T C -0.0021156 0.0039508 0.5923195 0.5923176 0.0569733 0.0127796 75177
1 731718 rs142557973 T C -0.0038948 0.0027028 0.1495871 0.1495823 0.1223380 0.1543530 75177
1 732032 rs61770163 A C -0.0057843 0.0028845 0.0449314 0.0449276 0.1218660 0.1555510 75177
1 734349 rs141242758 T C -0.0039250 0.0027045 0.1467040 0.1467002 0.1216090 0.1525560 75177
1 740284 rs61770167 C T -0.0049895 0.0122498 0.6837810 0.6837783 0.0058807 0.0023962 75177
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
23 154923311 rs141127553 C T 0.0054804 0.0032026 0.0870382 0.0870337 0.0546566 0.0309934 75177
23 154923374 rs111332691 T A -0.0000482 0.0034529 0.9888540 0.9888536 0.0450404 0.0116556 75177
23 154925045 rs509981 C T -0.0002888 0.0016704 0.8627409 0.8627411 0.2443920 0.3634440 75177
23 154925895 rs538470 C T -0.0003540 0.0017076 0.8357610 0.8357597 0.2408890 0.3634440 75177
23 154927581 rs644138 G A 0.0010688 0.0015730 0.4968165 0.4968169 0.2994310 0.4635760 75177
23 154929412 rs557132 C T -0.0003031 0.0016707 0.8560261 0.8560252 0.2442760 0.3568210 75177
23 154929637 rs35185538 CT C 0.0000507 0.0017443 0.9768071 0.9768068 0.2287170 0.3011920 75177
23 154929952 rs4012982 CAA C -0.0005297 0.0017580 0.7631695 0.7631681 0.2382650 0.3165560 75177
23 154930230 rs781880 A G -0.0004188 0.0016703 0.8020449 0.8020441 0.2447030 0.3618540 75177
23 154930487 rs781879 T A -0.0052243 0.0056755 0.3573173 0.3573141 0.0195950 0.1263580 75177

bcf preview

1   692794  rs530212009 CA  C   .   PASS    AF=0.111564 ES:SE:LP:AF:SS:ID   -0.00480127:0.00300928:0.956213:0.111564:75177:1_692794_CA_C
1   693731  rs12238997  A   G   .   PASS    AF=0.116477 ES:SE:LP:AF:SS:ID   -0.00341396:0.00284926:0.636678:0.116477:75177:rs12238997
1   707522  rs371890604 G   C   .   PASS    AF=0.0977849    ES:SE:LP:AF:SS:ID   -0.0052878:0.00320236:1.00569:0.0977849:75177:rs371890604
1   717587  rs144155419 G   A   .   PASS    AF=0.0159063    ES:SE:LP:AF:SS:ID   -0.00969794:0.00759828:0.694988:0.0159063:75177:rs144155419
1   723329  rs189787166 A   T   .   PASS    AF=0.00177526   ES:SE:LP:AF:SS:ID   -0.00460549:0.0222805:0.0776685:0.00177526:75177:rs189787166
1   730087  rs148120343 T   C   .   PASS    AF=0.0569733    ES:SE:LP:AF:SS:ID   -0.00211555:0.00395075:0.227444:0.0569733:75177:rs148120343
1   731718  rs58276399  T   C   .   PASS    AF=0.122338 ES:SE:LP:AF:SS:ID   -0.00389483:0.00270285:0.825106:0.122338:75177:rs58276399
1   732032  rs61770163  A   C   .   PASS    AF=0.121866 ES:SE:LP:AF:SS:ID   -0.00578428:0.00288445:1.34745:0.121866:75177:rs61770163
1   734349  rs141242758 T   C   .   PASS    AF=0.121609 ES:SE:LP:AF:SS:ID   -0.00392496:0.00270447:0.833558:0.121609:75177:rs141242758
1   740284  rs61770167  C   T   .   PASS    AF=0.00588068   ES:SE:LP:AF:SS:ID   -0.0049895:0.0122498:0.165083:0.00588068:75177:rs61770167
1   742813  rs112573343 C   T   .   PASS    AF=0.00180846   ES:SE:LP:AF:SS:ID   0.02329:0.0238593:0.482807:0.00180846:75177:rs112573343
1   749963  rs529266287 T   TAA .   PASS    AF=0.868816 ES:SE:LP:AF:SS:ID   0.00431027:0.00266098:0.977662:0.868816:75177:rs529266287
1   750230  rs190826124 G   C   .   PASS    AF=0.00165878   ES:SE:LP:AF:SS:ID   -0.00859814:0.0230653:0.149159:0.00165878:75177:rs190826124
1   751343  rs28544273  T   A   .   PASS    AF=0.123758 ES:SE:LP:AF:SS:ID   -0.00370783:0.00263824:0.796152:0.123758:75177:rs28544273
1   751488  rs200141114 G   GA  .   PASS    AF=0.143056 ES:SE:LP:AF:SS:ID   -0.00248787:0.00261396:0.466966:0.143056:75177:rs200141114
1   751756  rs28527770  T   C   .   PASS    AF=0.123902 ES:SE:LP:AF:SS:ID   -0.00365355:0.00263431:0.78127:0.123902:75177:rs28527770
1   753405  rs3115860   C   A   .   PASS    AF=0.869912 ES:SE:LP:AF:SS:ID   0.00332356:0.00256692:0.709067:0.869912:75177:rs3115860
1   753425  rs3131970   T   C   .   PASS    AF=0.874529 ES:SE:LP:AF:SS:ID   0.00380322:0.00260842:0.839144:0.874529:75177:rs3131970
1   753541  rs2073813   G   A   .   PASS    AF=0.129553 ES:SE:LP:AF:SS:ID   -0.00347342:0.00257511:0.751068:0.129553:75177:rs2073813
1   754105  rs12184325  C   T   .   PASS    AF=0.0360084    ES:SE:LP:AF:SS:ID   -0.00374728:0.00469013:0.372318:0.0360084:75177:rs12184325
1   754182  rs3131969   A   G   .   PASS    AF=0.869552 ES:SE:LP:AF:SS:ID   0.00333021:0.00256486:0.711851:0.869552:75177:rs3131969
1   754192  rs3131968   A   G   .   PASS    AF=0.869633 ES:SE:LP:AF:SS:ID   0.00324437:0.00256582:0.685985:0.869633:75177:rs3131968
1   754334  rs3131967   T   C   .   PASS    AF=0.869547 ES:SE:LP:AF:SS:ID   0.00333434:0.00256475:0.713131:0.869547:75177:rs3131967
1   754433  rs150578204 G   A   .   PASS    AF=0.00528791   ES:SE:LP:AF:SS:ID   0.0114307:0.0128717:0.426527:0.00528791:75177:rs150578204
1   754458  rs142682604 G   T   .   PASS    AF=0.00525393   ES:SE:LP:AF:SS:ID   0.0117647:0.0129041:0.441379:0.00525393:75177:rs142682604
1   755435  rs184270342 T   G   .   PASS    AF=0.00558736   ES:SE:LP:AF:SS:ID   -0.0253253:0.0126888:1.33771:0.00558736:75177:rs184270342
1   755890  rs3115858   A   T   .   PASS    AF=0.869525 ES:SE:LP:AF:SS:ID   0.00349477:0.00255925:0.764252:0.869525:75177:rs3115858
1   756434  rs61768170  G   C   .   PASS    AF=0.126948 ES:SE:LP:AF:SS:ID   -0.00392277:0.00261354:0.874926:0.126948:75177:rs61768170
1   756604  rs3131962   A   G   .   PASS    AF=0.869049 ES:SE:LP:AF:SS:ID   0.0037381:0.00255276:0.844339:0.869049:75177:rs3131962
1   757640  rs3115853   G   A   .   PASS    AF=0.868472 ES:SE:LP:AF:SS:ID   0.00320687:0.00255156:0.68023:0.868472:75177:rs3115853
1   757734  rs4951929   C   T   .   PASS    AF=0.869198 ES:SE:LP:AF:SS:ID   0.00361736:0.00255502:0.804535:0.869198:75177:rs4951929
1   757936  rs4951862   C   A   .   PASS    AF=0.869203 ES:SE:LP:AF:SS:ID   0.00361528:0.00255519:0.803799:0.869203:75177:rs4951862
1   758144  rs3131956   A   G   .   PASS    AF=0.869206 ES:SE:LP:AF:SS:ID   0.00361091:0.00255522:0.8024:0.869206:75177:rs3131956
1   758626  rs3131954   C   T   .   PASS    AF=0.869689 ES:SE:LP:AF:SS:ID   0.00347001:0.00256184:0.755522:0.869689:75177:rs3131954
1   759293  rs10157329  T   A   .   PASS    AF=0.0991701    ES:SE:LP:AF:SS:ID   -0.00399791:0.00298064:0.74514:0.0991701:75177:rs10157329
1   759600  rs545998451 AGT A   .   PASS    AF=0.00642849   ES:SE:LP:AF:SS:ID   -0.0231832:0.0115436:1.35053:0.00642849:75177:1_759600_AGT_A
1   759837  rs3115851   T   A   .   PASS    AF=0.873648 ES:SE:LP:AF:SS:ID   0.00368255:0.00259938:0.80528:0.873648:75177:rs3115851
1   761732  rs2286139   C   T   .   PASS    AF=0.863065 ES:SE:LP:AF:SS:ID   0.00350443:0.00255072:0.770892:0.863065:75177:rs2286139
1   761752  rs1057213   C   T   .   PASS    AF=0.868456 ES:SE:LP:AF:SS:ID   0.00398216:0.00257509:0.913608:0.868456:75177:rs1057213
1   762273  rs3115849   G   A   .   PASS    AF=0.865365 ES:SE:LP:AF:SS:ID   0.00402211:0.00257601:0.926502:0.865365:75177:rs3115849
1   762485  rs12095200  C   A   .   PASS    AF=0.0995942    ES:SE:LP:AF:SS:ID   -0.00586238:0.00308253:1.2426:0.0995942:75177:rs12095200
1   762589  rs3115848   G   C   .   PASS    AF=0.870659 ES:SE:LP:AF:SS:ID   0.00379583:0.00260514:0.838315:0.870659:75177:rs3115848
1   762592  rs3131950   C   G   .   PASS    AF=0.870659 ES:SE:LP:AF:SS:ID   0.00379645:0.00260514:0.838512:0.870659:75177:rs3131950
1   762601  rs3131949   T   C   .   PASS    AF=0.870656 ES:SE:LP:AF:SS:ID   0.00379745:0.00260515:0.838824:0.870656:75177:rs3131949
1   762632  rs3131948   T   A   .   PASS    AF=0.871036 ES:SE:LP:AF:SS:ID   0.00371426:0.00260642:0.812059:0.871036:75177:rs3131948
1   764191  rs7515915   T   G   .   PASS    AF=0.126586 ES:SE:LP:AF:SS:ID   -0.00380562:0.00260933:0.839483:0.126586:75177:rs7515915
1   766007  rs61768174  A   C   .   PASS    AF=0.10597  ES:SE:LP:AF:SS:ID   -0.00450301:0.00283663:0.949176:0.10597:75177:rs61768174
1   766105  rs2519015   T   A   .   PASS    AF=0.854336 ES:SE:LP:AF:SS:ID   0.00395663:0.00255001:0.918077:0.854336:75177:rs2519015
1   767393  rs538667473 A   C   .   PASS    AF=0.00168869   ES:SE:LP:AF:SS:ID   -0.00482166:0.0223331:0.0814098:0.00168869:75177:rs538667473
1   768116  rs376645387 A   AGTTTT  .   PASS    AF=0.839618 ES:SE:LP:AF:SS:ID   -0.00247344:0.00251897:0.486597:0.839618:75177:rs376645387