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=ubm-a-2808,TotalVariants=11734353,VariantsNotRead=0,HarmonisedVariants=11734353,VariantsNotHarmonised=0,SwitchedAlleles=0,TotalControls=7916.0,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/ubm-a-import/processed/ubm-a-2808/ubm-a-2808_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
    "file_date": "2020-02-08T04:56:14.081056",
    "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/ubm-a-import/processed/ubm-a-2808/ubm-a-2808.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ubm-a-import/processed/ubm-a-2808/ubm-a-2808_data.vcf.gz; Date=Sat Feb  8 05:32:57 2020",
    "bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
    "bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ubm-a-2808/ubm-a-2808.vcf.gz; Date=Sun May 10 02:04:19 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/ubm-a-import/processed/ubm-a-2808/ubm-a-2808.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/ubm-a-import/processed/ubm-a-2808/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ 

Beginning analysis at Sat Feb  8 06:04:30 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ubm-a-import/processed/ubm-a-2808/ubm-a-2808.vcf.gz ...
Read summary statistics for 11734353 SNPs.
Dropped 14445 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, 1288946 SNPs remain.
After merging with regression SNP LD, 1288946 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0829 (0.0484)
Lambda GC: 1.0093
Mean Chi^2: 1.0089
Intercept: 0.9961 (0.006)
Ratio < 0 (usually indicates GC correction).
Analysis finished at Sat Feb  8 06:06:10 2020
Total time elapsed: 1.0m:40.29s

QC metrics

Metrics

Metrics

{
    "af_correlation": 0.9541,
    "inflation_factor": 0.9945,
    "mean_EFFECT": -0.0001,
    "n": "-Inf",
    "n_snps": 11734353,
    "n_clumped_hits": 1,
    "n_p_sig": 2,
    "n_mono": 0,
    "n_ns": 0,
    "n_mac": 0,
    "is_snpid_unique": true,
    "n_miss_EFFECT": 0,
    "n_miss_SE": 0,
    "n_miss_PVAL": 0,
    "n_miss_AF": 0,
    "n_miss_AF_reference": 433877,
    "n_est": "NA",
    "ratio_se_n": "NA",
    "mean_diff": "NaN",
    "ratio_diff": "NaN",
    "sd_y_est1": "NaN",
    "sd_y_est2": "NA",
    "r2_sum1": 0,
    "r2_sum2": 0,
    "r2_sum3": 0,
    "r2_sum4": 0,
    "ldsc_nsnp_merge_refpanel_ld": 1288946,
    "ldsc_nsnp_merge_regression_ld": 1288946,
    "ldsc_observed_scale_h2_beta": 0.0829,
    "ldsc_observed_scale_h2_se": 0.0484,
    "ldsc_intercept_beta": 0.9961,
    "ldsc_intercept_se": 0.006,
    "ldsc_lambda_gc": 1.0093,
    "ldsc_mean_chisq": 1.0089,
    "ldsc_ratio": -0.4382
}

Flags

name value
af_correlation FALSE
inflation_factor FALSE
n TRUE
is_snpid_non_unique FALSE
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 logical.mean logical.count numeric.mean numeric.sd numeric.p0 numeric.p25 numeric.p50 numeric.p75 numeric.p100 numeric.hist
character ID 0 1.0000000 3 64 0 11719943 0 NA NA NA NA NA NA NA NA NA NA
character REF 0 1.0000000 1 1 0 4 0 NA NA NA NA NA NA NA NA NA NA
character ALT 0 1.0000000 1 1 0 4 0 NA NA NA NA NA NA NA NA NA NA
logical N 11734353 0.0000000 NA NA NA NA NA NaN : NA NA NA NA NA NA NA NA
numeric CHROM 0 1.0000000 NA NA NA NA NA NA NA 8.650690e+00 5.767834e+00 1.0000 4.000000e+00 8.000000e+00 1.300000e+01 2.200000e+01 ▇▅▃▂▂
numeric POS 0 1.0000000 NA NA NA NA NA NA NA 7.882237e+07 5.627455e+07 173.0000 3.258219e+07 6.943117e+07 1.145037e+08 2.492385e+08 ▇▆▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA NA NA -1.225000e-04 9.535110e-02 -1.3022 -2.470000e-02 0.000000e+00 2.470000e-02 1.597500e+00 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA NA NA 6.929250e-02 6.555760e-02 0.0138 1.790000e-02 3.800000e-02 1.059000e-01 8.681000e-01 ▇▁▁▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA NA NA 4.990822e-01 2.890535e-01 0.0000 2.511892e-01 5.011872e-01 7.413102e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA NA NA 4.990343e-01 2.889996e-01 0.0000 2.484159e-01 4.986301e-01 7.494464e-01 1.000000e+00 ▇▇▇▇▇
numeric AF 0 1.0000000 NA NA NA NA NA NA NA 1.704462e-01 2.461625e-01 0.0010 5.052400e-03 3.933600e-02 2.479800e-01 9.990000e-01 ▇▁▁▁▁
numeric AF_reference 433877 0.9630251 NA NA NA NA NA NA NA 1.762844e-01 2.405031e-01 0.0000 3.394600e-03 5.890580e-02 2.647760e-01 1.000000e+00 ▇▂▁▁▁

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 54676 rs2462492 C T -0.0035 0.0249 0.8912509 0.8882158 0.3996650 NA NA
1 55326 rs3107975 T C -0.1696 0.1263 0.1778279 0.1793256 0.0089751 0.0459265 NA
1 57033 rs2691311 T C 0.2078 0.2914 0.4786301 0.4757782 0.0018298 NA NA
1 86028 rs114608975 T C -0.0158 0.0400 0.6918310 0.6928429 0.1044800 0.0277556 NA
1 91536 rs6702460 G T 0.0226 0.0243 0.3548134 0.3523498 0.4542200 0.4207270 NA
1 234313 rs8179466 C T 0.0907 0.0485 0.0616595 0.0614695 0.0749740 NA NA
1 526736 rs28863004 C G -0.0294 0.1728 0.8709640 0.8649009 0.0058798 0.1317890 NA
1 533198 rs78497331 C T -0.6923 0.4283 0.1071519 0.1060099 0.0010150 0.0814696 NA
1 534192 rs6680723 C T -0.0064 0.0282 0.8128311 0.8204623 0.2387500 NA NA
1 534583 rs6683466 C G 0.0109 0.1458 0.9332541 0.9404057 0.0068656 NA NA
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
22 51221731 rs115055839 T C 0.0476 0.0265 0.0724436 0.0724585 0.0764300 0.0625000 NA
22 51222100 rs114553188 G T -0.0285 0.0319 0.3715352 0.3716339 0.0538360 0.0880591 NA
22 51226692 rs150189434 G A 0.2409 0.1664 0.1479108 0.1476964 0.0020807 0.0155751 NA
22 51227766 rs186062720 T C -0.0754 0.1914 0.6918310 0.6936258 0.0021656 0.0005990 NA
22 51229805 rs9616985 T C 0.0475 0.0266 0.0741310 0.0741455 0.0763670 0.0730831 NA
22 51230673 rs555680442 G C -0.1269 0.1642 0.4365158 0.4396183 0.0027488 0.0017971 NA
22 51231424 rs539541647 A G 0.2042 0.2326 0.3801894 0.3799969 0.0011219 0.0011981 NA
22 51232488 rs376461333 A G -0.0545 0.0650 0.3981072 0.4017715 0.0194930 NA NA
22 51237063 rs3896457 T C -0.0089 0.0167 0.5888437 0.5940792 0.2945100 0.2050720 NA
22 51239586 rs535432390 T G -0.2618 0.1611 0.1047131 0.1041460 0.0025620 0.0001997 NA

bcf preview

1   54676   rs2462492   C   T   .   PASS    AF=0.399665 ES:SE:LP:AF:ID  -0.0035:0.0249:0.05:0.399665:rs2462492
1   55326   rs3107975   T   C   .   PASS    AF=0.0089751    ES:SE:LP:AF:ID  -0.1696:0.1263:0.75:0.0089751:rs3107975
1   57033   rs2691311   T   C   .   PASS    AF=0.0018298    ES:SE:LP:AF:ID  0.2078:0.2914:0.32:0.0018298:rs74447903
1   86028   rs114608975 T   C   .   PASS    AF=0.10448  ES:SE:LP:AF:ID  -0.0158:0.04:0.16:0.10448:rs114608975
1   91536   rs6702460   G   T   .   PASS    AF=0.45422  ES:SE:LP:AF:ID  0.0226:0.0243:0.45:0.45422:rs6702460
1   234313  rs8179466   C   T   .   PASS    AF=0.074974 ES:SE:LP:AF:ID  0.0907:0.0485:1.21:0.074974:rs8179466
1   526736  rs28863004  C   G   .   PASS    AF=0.0058798    ES:SE:LP:AF:ID  -0.0294:0.1728:0.0599998:0.0058798:rs28863004
1   533198  rs78497331  C   T   .   PASS    AF=0.001015 ES:SE:LP:AF:ID  -0.6923:0.4283:0.97:0.001015:rs78497331
1   534192  rs6680723   C   T   .   PASS    AF=0.23875  ES:SE:LP:AF:ID  -0.0064:0.0282:0.0899997:0.23875:rs6680723
1   534583  rs6683466   C   G   .   PASS    AF=0.0068656    ES:SE:LP:AF:ID  0.0109:0.1458:0.0300001:0.0068656:rs6683466
1   544584  rs576404767 C   T   .   PASS    AF=0.0016212    ES:SE:LP:AF:ID  0.5656:0.2461:1.67:0.0016212:rs576404767
1   546697  rs12025928  A   G   .   PASS    AF=0.91442  ES:SE:LP:AF:ID  0.0158:0.0352:0.18:0.91442:rs12025928
1   564862  rs1988726   T   C   .   PASS    AF=0.0012083    ES:SE:LP:AF:ID  -0.8832:0.3478:1.95:0.0012083:rs1988726
1   565111  rs573042692 T   C   .   PASS    AF=0.0015048    ES:SE:LP:AF:ID  -0.3838:0.3042:0.679999:0.0015048:rs573042692
1   565130  rs371431021 G   A   .   PASS    AF=0.0043852    ES:SE:LP:AF:ID  0.0879:0.1866:0.2:0.0043852:rs371431021
1   565196  rs538567606 T   C   .   PASS    AF=0.0021264    ES:SE:LP:AF:ID  0.026:0.2667:0.0399999:0.0021264:rs538567606
1   565469  rs554127336 C   T   .   PASS    AF=0.0016408    ES:SE:LP:AF:ID  -0.1598:0.2824:0.24:0.0016408:rs554127336
1   565490  rs7349153   T   C   .   PASS    AF=0.001359 ES:SE:LP:AF:ID  -0.7434:0.3293:1.62:0.001359:rs7349153
1   566024  rs6421779   G   A   .   PASS    AF=0.0012223    ES:SE:LP:AF:ID  -0.6464:0.331:1.29:0.0012223:rs6421779
1   566792  rs9283152   T   C   .   PASS    AF=0.002176 ES:SE:LP:AF:ID  -0.5014:0.2734:1.18:0.002176:rs9283152
1   566933  rs113120793 A   G   .   PASS    AF=0.0012255    ES:SE:LP:AF:ID  -0.8777:0.3476:1.94:0.0012255:rs113120793
1   566960  rs2185540   T   C   .   PASS    AF=0.0013642    ES:SE:LP:AF:ID  -0.8196:0.3321:1.87:0.0013642:rs2185540
1   567006  rs565235853 G   T   .   PASS    AF=0.002852 ES:SE:LP:AF:ID  0.3297:0.1607:1.4:0.002852:rs565235853
1   567092  rs9326622   T   C   .   PASS    AF=0.0013225    ES:SE:LP:AF:ID  -0.8075:0.3326:1.82:0.0013225:rs9326622
1   567119  rs9283153   A   C   .   PASS    AF=0.0014721    ES:SE:LP:AF:ID  -0.6266:0.3202:1.3:0.0014721:rs9283153
1   567867  rs2000096   A   G   .   PASS    AF=0.0028155    ES:SE:LP:AF:ID  -0.3804:0.2405:0.940001:0.0028155:rs2000096
1   568072  rs2853820   A   G   .   PASS    AF=0.0014994    ES:SE:LP:AF:ID  -0.7066:0.3043:1.69:0.0014994:rs2853820
1   568463  rs2153587   A   G   .   PASS    AF=0.0011247    ES:SE:LP:AF:ID  -0.9249:0.3532:2.05:0.0011247:rs2153587
1   568800  rs375217967 G   A   .   PASS    AF=0.016753 ES:SE:LP:AF:ID  -0.1082:0.0969:0.58:0.016753:rs375217967
1   569004  rs9285835   T   C   .   PASS    AF=0.015599 ES:SE:LP:AF:ID  -0.1916:0.0912:1.45:0.015599:rs9285835
1   569543  rs538153094 G   A   .   PASS    AF=0.0015978    ES:SE:LP:AF:ID  -0.0023:0.333:-0:0.0015978:rs538153094
1   569604  rs9645429   G   A   .   PASS    AF=0.001787 ES:SE:LP:AF:ID  0.1812:0.2737:0.29:0.001787:rs9645429
1   601550  rs2491328   G   A   .   PASS    AF=0.0035313    ES:SE:LP:AF:ID  -0.0091:0.2045:0.0199998:0.0035313:rs78266750
1   693731  rs12238997  A   G   .   PASS    AF=0.12069  ES:SE:LP:AF:ID  -0.0224:0.0232:0.48:0.12069:rs12238997
1   705882  rs72631875  G   A   .   PASS    AF=0.064537 ES:SE:LP:AF:ID  0.0411:0.0351:0.620001:0.064537:rs72631875
1   705942  rs544671234 A   T   .   PASS    AF=0.0034158    ES:SE:LP:AF:ID  -0.1904:0.1548:0.66:0.0034158:rs544671234
1   713092  rs4565649   G   A   .   PASS    AF=0.0019147    ES:SE:LP:AF:ID  -0.0506:0.1958:0.1:0.0019147:rs4565649
1   714277  rs138660747 C   A   .   PASS    AF=0.0072919    ES:SE:LP:AF:ID  -0.1245:0.1135:0.56:0.0072919:rs138660747
1   714596  rs149887893 T   C   .   PASS    AF=0.028642 ES:SE:LP:AF:ID  -0.0706:0.0469:0.879999:0.028642:rs149887893
1   715205  rs141090730 C   G   .   PASS    AF=0.0018524    ES:SE:LP:AF:ID  -0.0438:0.202:0.0799999:0.0018524:rs141090730
1   715265  rs12184267  C   T   .   PASS    AF=0.03198  ES:SE:LP:AF:ID  -0.0519:0.0424:0.66:0.03198:rs12184267
1   715367  rs12184277  A   G   .   PASS    AF=0.032112 ES:SE:LP:AF:ID  -0.0551:0.0422:0.72:0.032112:rs12184277
1   717474  rs141784362 C   T   .   PASS    AF=0.0016827    ES:SE:LP:AF:ID  -0.1246:0.2138:0.25:0.0016827:rs141784362
1   717485  rs12184279  C   A   .   PASS    AF=0.031853 ES:SE:LP:AF:ID  -0.0523:0.0425:0.66:0.031853:rs12184279
1   717587  rs144155419 G   A   .   PASS    AF=0.01666  ES:SE:LP:AF:ID  0.0658:0.0609:0.55:0.01666:rs144155419
1   718336  rs188996809 T   C   .   PASS    AF=0.0018748    ES:SE:LP:AF:ID  -0.4348:0.2393:1.16:0.0018748:rs188996809
1   720381  rs116801199 G   T   .   PASS    AF=0.032321 ES:SE:LP:AF:ID  -0.0524:0.042:0.67:0.032321:rs116801199
1   720583  rs551231909 G   A   .   PASS    AF=0.001407 ES:SE:LP:AF:ID  -0.3717:0.246:0.879999:0.001407:rs551231909
1   720984  rs564367954 T   G   .   PASS    AF=0.0016131    ES:SE:LP:AF:ID  0.0256:0.2221:0.0399999:0.0016131:rs564367954
1   721290  rs12565286  G   C   .   PASS    AF=0.032465 ES:SE:LP:AF:ID  -0.052:0.0418:0.67:0.032465:rs12565286