Summary

Summary {data-width=650}

Manhattan plot

manhattan_plot

QQ plot

qq_plot

AF plot

af_plot

P-Z plot

pz_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=ieu-b-4902,TotalVariants=7002835,VariantsNotRead=0,HarmonisedVariants=7002835,VariantsNotHarmonised=0,SwitchedAlleles=0,NormalisedVariants=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>",
    "Gwas2VCF_command": "--data /data/cromwell-executions/qc/fdaae935-71a4-4807-99c7-7ddca4b175f6/call-vcf/inputs/-261043611/upload.txt.gz --id ieu-b-4902 --json /data/cromwell-executions/qc/fdaae935-71a4-4807-99c7-7ddca4b175f6/call-vcf/inputs/-261043611/ieu-b-4902_data.json --ref /data/cromwell-executions/qc/fdaae935-71a4-4807-99c7-7ddca4b175f6/call-vcf/inputs/1899004205/human_g1k_v37.fasta --dbsnp /data/cromwell-executions/qc/fdaae935-71a4-4807-99c7-7ddca4b175f6/call-vcf/inputs/-307190728/dbsnp.v153.b37.vcf.gz --out /data/igd/ieu-b-4902/ieu-b-4902.vcf.gz --alias alias.txt; 1.3.0",
    "file_date": "2022-03-03T17:43:57.344578",
    "bcftools_viewVersion": "1.9+htslib-1.9",
    "bcftools_viewCommand": "view -h /data/cromwell-executions/qc/fdaae935-71a4-4807-99c7-7ddca4b175f6/call-report/inputs/-261043611/ieu-b-4902.vcf.gz; Date=Thu Mar  3 17:58:46 2022"
}
 

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 /data/cromwell-executions/qc/fdaae935-71a4-4807-99c7-7ddca4b175f6/call-ldsc/inputs/-261043611/ieu-b-4902.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-4902/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/ 

Beginning analysis at Thu Mar  3 17:52:13 2022
Reading summary statistics from /data/cromwell-executions/qc/fdaae935-71a4-4807-99c7-7ddca4b175f6/call-ldsc/inputs/-261043611/ieu-b-4902.vcf.gz ...
Read summary statistics for 0 SNPs.
Reading reference panel LD Score from /data/ref/eur_w_ld_chr/[1-22] ... (ldscore_fromlist)
Read reference panel LD Scores for 1290028 SNPs.
Removing partitioned LD Scores with zero variance.
Reading regression weight LD Score from /data/ref/eur_w_ld_chr/[1-22] ... (ldscore_fromlist)
Read regression weight LD Scores for 1290028 SNPs.
Traceback (most recent call last):
  File "./ldsc/ldsc.py", line 647, in <module>
    sumstats.estimate_h2(args, log)
  File "/ldsc/ldscore/sumstats.py", line 330, in estimate_h2
    args, log, args.h2)
  File "/ldsc/ldscore/sumstats.py", line 252, in _read_ld_sumstats
    sumstats = _merge_and_log(ref_ld, sumstats, 'reference panel LD', log)
  File "/ldsc/ldscore/sumstats.py", line 238, in _merge_and_log
    raise ValueError(msg.format(N=len(sumstats), F=noun))
ValueError: After merging with reference panel LD, 0 SNPs remain.

Analysis finished at Thu Mar  3 17:52:56 2022
Total time elapsed: 43.35s

QC metrics

Metrics

Metrics

{
    "af_correlation": 0.5873,
    "inflation_factor": 0.9982,
    "mean_EFFECT": -0,
    "n": "-Inf",
    "n_snps": 7002835,
    "n_clumped_hits": 0,
    "n_p_sig": 0,
    "n_mono": 0,
    "n_ns": 0,
    "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": 58038,
    "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": 0,
    "ldsc_nsnp_merge_regression_ld": "NA",
    "ldsc_observed_scale_h2_beta": "NA",
    "ldsc_observed_scale_h2_se": "NA",
    "ldsc_intercept_beta": "NA",
    "ldsc_intercept_se": "NA",
    "ldsc_lambda_gc": "NA",
    "ldsc_mean_chisq": "NA",
    "ldsc_ratio": "NA"
}
 

Flags

name value
af_correlation TRUE
inflation_factor FALSE
n TRUE
is_snpid_non_unique TRUE
mean_EFFECT_nonfinite FALSE
mean_EFFECT_05 FALSE
mean_EFFECT_01 FALSE
mean_chisq NA
n_p_sig FALSE
miss_EFFECT FALSE
miss_SE FALSE
miss_PVAL FALSE
ldsc_ratio NA
ldsc_intercept_beta NA
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 72 0.9999897 3 47 0 7000417 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 7002835 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 8.618705e+00 5.749463e+00 1.0000000 4.000000e+00 8.000000e+00 1.300000e+01 2.200000e+01 ▇▅▅▂▂
numeric POS 0 1.0000000 NA NA NA NA NA NA NA 7.915377e+07 5.617346e+07 2801.0000000 3.284028e+07 6.984962e+07 1.148257e+08 2.492225e+08 ▇▆▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA NA NA -3.510000e-05 1.084465e-01 -71.0575000 -3.446770e-02 -4.000000e-07 3.430090e-02 1.002450e+02 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA NA NA 6.455500e-02 8.061870e-02 0.0288957 3.389390e-02 4.746200e-02 8.385130e-02 5.908850e+01 ▇▁▁▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA NA NA 4.997003e-01 2.890308e-01 0.0000002 2.488502e-01 5.003858e-01 7.499287e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA NA NA 4.996261e-01 2.890753e-01 0.0000002 2.487216e-01 5.003133e-01 7.498984e-01 1.000000e+00 ▇▇▇▇▇
numeric AF 0 1.0000000 NA NA NA NA NA NA NA 1.660951e-01 1.470647e-01 0.0096754 3.513900e-02 1.158300e-01 2.772200e-01 5.000000e-01 ▇▃▂▂▂
numeric AF_reference 58038 0.9917122 NA NA NA NA NA NA NA 2.437210e-01 2.514234e-01 0.0000000 3.953670e-02 1.501600e-01 3.793930e-01 1.000000e+00 ▇▂▂▁▁

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 568800 rs375217967 G A 0.4043580 0.432310 0.3497172 0.3496117 0.016076 0.0778754 NA
1 569004 rs9285835 T C -0.2975590 0.379522 0.4331058 0.4330188 0.012532 NA NA
1 569624 rs6594035 T C 0.6912730 0.907846 0.4464759 0.4463925 0.011422 NA NA
1 717587 rs144155419 G A 0.0454052 0.366664 0.9014590 0.9014473 0.016514 0.0045927 NA
1 724849 rs12126395 C A 0.6386450 0.337894 0.0588830 0.0587479 0.030038 NA NA
1 731453 rs186002080 G A 0.0370046 0.355649 0.9171410 0.9171312 0.015304 0.0059904 NA
1 732989 rs369030935 C T -0.0088524 0.206598 0.9658260 0.9658222 0.021775 0.0093850 NA
1 755240 rs181660517 T G -0.9690680 0.502478 0.0539150 0.0537833 0.011824 0.0025958 NA
1 769885 rs200025137 G A 0.2831470 0.746992 0.7046882 0.7046511 0.014613 NA NA
1 770181 rs146076599 A G -0.3521900 0.483480 0.4664187 0.4663394 0.010521 0.0059904 NA
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
22 51198569 rs142671391 G C 0.0477092 0.0697098 0.4937976 0.4937243 0.049827 0.1110220 NA
22 51198868 rs185017671 T C -0.1790450 0.1383590 0.1957830 0.1956443 0.012517 0.0045927 NA
22 51198998 rs117815989 C A -0.1797370 0.1383620 0.1940729 0.1939321 0.012531 0.0045927 NA
22 51208568 rs148425445 G T 0.0345051 0.0640416 0.5900869 0.5900304 0.055549 0.1160140 NA
22 51212614 rs142823097 C T 0.0796355 0.1453880 0.5839236 0.5838672 0.017949 0.0073882 NA
22 51217556 rs187294336 C T -0.2132690 0.1544120 0.1673709 0.1672271 0.010315 0.0023962 NA
22 51220517 rs9616980 C G 0.0651226 0.1963180 0.7401334 0.7401007 0.011741 0.0027955 NA
22 51222100 rs114553188 G T 0.0247724 0.0652036 0.7040395 0.7040020 0.053551 0.0880591 NA
22 51223637 rs375798137 G A 0.0214240 0.0657286 0.7444971 0.7444649 0.053086 0.0788738 NA
22 51232488 rs376461333 A G -0.0373195 0.1375340 0.7861492 0.7861238 0.020104 NA NA

bcf preview

1   568800  rs375217967 G   A   .   PASS    AF=0.016076 ES:SE:LP:AF:ID  0.404358:0.43231:0.456283:0.016076:rs375217967
1   569004  rs9285835   T   C   .   PASS    AF=0.012532 ES:SE:LP:AF:ID  -0.297559:0.379522:0.363406:0.012532:rs9285835
1   569624  rs6594035   T   C   .   PASS    AF=0.011422 ES:SE:LP:AF:ID  0.691273:0.907846:0.350202:0.011422:rs6594035
1   717587  rs144155419 G   A   .   PASS    AF=0.016514 ES:SE:LP:AF:ID  0.0454052:0.366664:0.045054:0.016514:rs144155419
1   724849  rs12126395  C   A   .   PASS    AF=0.030038 ES:SE:LP:AF:ID  0.638645:0.337894:1.23001:0.030038:rs12126395
1   731453  rs186002080 G   A   .   PASS    AF=0.015304 ES:SE:LP:AF:ID  0.0370046:0.355649:0.0375639:0.015304:rs186002080
1   732989  rs369030935 C   T   .   PASS    AF=0.021775 ES:SE:LP:AF:ID  -0.00885243:0.206598:0.0151011:0.021775:rs369030935
1   755240  rs181660517 T   G   .   PASS    AF=0.011824 ES:SE:LP:AF:ID  -0.969068:0.502478:1.26829:0.011824:rs181660517
1   769885  rs200025137 G   A   .   PASS    AF=0.014613 ES:SE:LP:AF:ID  0.283147:0.746992:0.152003:0.014613:rs200025137
1   770181  rs146076599 A   G   .   PASS    AF=0.010521 ES:SE:LP:AF:ID  -0.35219:0.48348:0.331224:0.010521:rs146076599
1   772927  rs116390263 C   T   .   PASS    AF=0.016549 ES:SE:LP:AF:ID  0.479772:0.490157:0.484414:0.016549:rs116390263
1   773124  rs142049927 T   C   .   PASS    AF=0.013657 ES:SE:LP:AF:ID  -0.450736:0.746251:0.262881:0.013657:rs142049927
1   773136  rs146709693 G   T   .   PASS    AF=0.013816 ES:SE:LP:AF:ID  -0.51989:0.745095:0.313892:0.013816:rs146709693
1   774760  rs1387547637    C   T   .   PASS    AF=0.012828 ES:SE:LP:AF:ID  0.00645912:0.428562:0.00525361:0.012828:rs1387547637
1   775125  rs147281566 C   T   .   PASS    AF=0.012821 ES:SE:LP:AF:ID  0.251705:0.580474:0.177434:0.012821:rs147281566
1   776556  rs151160018 C   T   .   PASS    AF=0.010383 ES:SE:LP:AF:ID  -1.19624:0.746046:0.962637:0.010383:rs151160018
1   782721  rs185280546 G   A   .   PASS    AF=0.012589 ES:SE:LP:AF:ID  -0.793599:0.455714:1.08751:0.012589:rs185280546
1   783071  rs142849724 C   T   .   PASS    AF=0.017654 ES:SE:LP:AF:ID  -0.0817466:0.381152:0.0808178:0.017654:rs142849724
1   783193  rs145767270 G   C   .   PASS    AF=0.012227 ES:SE:LP:AF:ID  -0.812224:0.462411:1.10157:0.012227:rs145767270
1   783194  rs138555831 G   T   .   PASS    AF=0.01225  ES:SE:LP:AF:ID  -0.812844:0.463148:1.10021:0.01225:rs138555831
1   787173  rs115093905 G   T   .   PASS    AF=0.030501 ES:SE:LP:AF:ID  0.24421:0.345465:0.319028:0.030501:rs115093905
1   793947  rs2519031   A   G   .   PASS    AF=0.020591 ES:SE:LP:AF:ID  -0.351915:0.427345:0.386877:0.020591:rs2519031
1   799879  rs149363311 C   T   .   PASS    AF=0.012097 ES:SE:LP:AF:ID  0.333872:0.268958:0.668346:0.012097:rs149363311
1   801536  rs79373928  T   G   .   PASS    AF=0.013709 ES:SE:LP:AF:ID  -0.395382:0.455293:0.41424:0.013709:rs79373928
1   807994  rs192742681 C   T   .   PASS    AF=0.016807 ES:SE:LP:AF:ID  0.145169:0.297535:0.203657:0.016807:rs192742681
1   810777  rs143204076 C   G   .   PASS    AF=0.022274 ES:SE:LP:AF:ID  -0.453844:0.354281:0.698271:0.022274:rs143204076
1   812670  rs4970340   A   C   .   PASS    AF=0.011804 ES:SE:LP:AF:ID  0.194755:0.296967:0.290718:0.011804:rs4970340
1   814870  rs149628520 T   G   .   PASS    AF=0.012136 ES:SE:LP:AF:ID  -1.47207:0.66449:1.5712:0.012136:rs149628520
1   821452  rs138748533 G   A   .   PASS    AF=0.012585 ES:SE:LP:AF:ID  -0.242394:0.792264:0.119374:0.012585:rs138748533
1   828539  rs149168804 A   T   .   PASS    AF=0.019671 ES:SE:LP:AF:ID  -0.703529:0.328863:1.48777:0.019671:rs149168804
1   832359  rs9697294   C   T   .   PASS    AF=0.020904 ES:SE:LP:AF:ID  0.055447:0.162957:0.134483:0.020904:rs9697294
1   834056  rs28482280  A   C   .   PASS    AF=0.02293  ES:SE:LP:AF:ID  0.0867512:0.156326:0.237326:0.02293:rs28482280
1   834263  rs143031236 C   T   .   PASS    AF=0.019725 ES:SE:LP:AF:ID  0.0664767:0.165914:0.161968:0.019725:rs143031236
1   834956  rs7518581   G   A   .   PASS    AF=0.022651 ES:SE:LP:AF:ID  0.0970907:0.158:0.26845:0.022651:rs7518581
1   836684  rs74460547  G   A   .   PASS    AF=0.021134 ES:SE:LP:AF:ID  -0.0594548:0.242279:0.0935728:0.021134:rs74460547
1   837214  rs72631888  G   C   .   PASS    AF=0.016147 ES:SE:LP:AF:ID  0.500317:0.242629:1.40537:0.016147:rs72631888
1   837657  rs149737509 G   C   .   PASS    AF=0.018657 ES:SE:LP:AF:ID  0.157096:0.198845:0.366947:0.018657:rs149737509
1   838665  rs28678693  T   C   .   PASS    AF=0.022006 ES:SE:LP:AF:ID  0.0824025:0.161949:0.214007:0.022006:rs28678693
1   838732  rs952157075 G   A   .   PASS    AF=0.021909 ES:SE:LP:AF:ID  0.0785181:0.162079:0.201957:0.021909:rs952157075
1   838890  rs28437697  A   G   .   PASS    AF=0.022031 ES:SE:LP:AF:ID  0.084028:0.161819:0.219233:0.022031:rs28437697
1   838916  rs28539852  A   T   .   PASS    AF=0.0222   ES:SE:LP:AF:ID  0.0824251:0.16173:0.21442:0.0222:rs28539852
1   839461  rs78238606  T   C   .   PASS    AF=0.021873 ES:SE:LP:AF:ID  0.0737662:0.162228:0.18751:0.021873:rs78238606
1   839495  rs113341842 G   T   .   PASS    AF=0.021822 ES:SE:LP:AF:ID  0.072321:0.162238:0.183223:0.021822:rs113341842
1   839528  rs115928763 A   G   .   PASS    AF=0.021885 ES:SE:LP:AF:ID  0.0745047:0.162312:0.18959:0.021885:rs115928763
1   839529  rs386627407 T   G   .   PASS    AF=0.021873 ES:SE:LP:AF:ID  0.0767388:0.162292:0.196289:0.021873:rs386627407
1   846236  rs138796872 G   A   .   PASS    AF=0.011191 ES:SE:LP:AF:ID  -1.30477:0.685296:1.24374:0.011191:rs138796872
1   846465  rs60454217  C   T   .   PASS    AF=0.019727 ES:SE:LP:AF:ID  -0.196171:0.329749:0.258088:0.019727:rs60454217
1   846543  rs79396034  G   T   .   PASS    AF=0.017995 ES:SE:LP:AF:ID  -0.329859:0.353821:0.454323:0.017995:rs79396034
1   848223  rs4246504   G   A   .   PASS    AF=0.013842 ES:SE:LP:AF:ID  0.706555:0.207445:3.17301:0.013842:rs4246504
1   853394  rs142336952 G   A   .   PASS    AF=0.013512 ES:SE:LP:AF:ID  0.0880365:0.211996:0.168781:0.013512:rs142336952