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-38,TotalVariants=7088083,VariantsNotRead=0,HarmonisedVariants=7088083,VariantsNotHarmonised=0,SwitchedAlleles=3256218,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/0439bf79-c5d6-44c1-8183-ef9974a26b6f/call-vcf/inputs/562856195/upload.txt.gz --id ieu-b-38 --json /data/cromwell-executions/qc/0439bf79-c5d6-44c1-8183-ef9974a26b6f/call-vcf/inputs/562856195/ieu-b-38_data.json --ref /data/cromwell-executions/qc/0439bf79-c5d6-44c1-8183-ef9974a26b6f/call-vcf/inputs/1899004205/human_g1k_v37.fasta --dbsnp /data/cromwell-executions/qc/0439bf79-c5d6-44c1-8183-ef9974a26b6f/call-vcf/inputs/-307190728/dbsnp.v153.b37.vcf.gz --out /data/igd/ieu-b-38/ieu-b-38.vcf.gz --rm_chr_prefix; 1.2.1",
    "file_date": "2020-08-20T17:35:39.218458",
    "bcftools_viewVersion": "1.9+htslib-1.9",
    "bcftools_viewCommand": "view -h /data/igd/ieu-b-38/ieu-b-38.vcf.gz; Date=Thu Feb 25 00:55:59 2021"
}
 

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/0439bf79-c5d6-44c1-8183-ef9974a26b6f/call-ldsc/inputs/562856195/ieu-b-38.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-38/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/ 

Beginning analysis at Thu Aug 20 17:45:12 2020
Reading summary statistics from /data/cromwell-executions/qc/0439bf79-c5d6-44c1-8183-ef9974a26b6f/call-ldsc/inputs/562856195/ieu-b-38.vcf.gz ...
Read summary statistics for 7088067 SNPs.
Dropped 18970 SNPs with duplicated rs numbers.
Reading reference panel LD Score from /data/ref/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 /data/ref/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1203548 SNPs remain.
After merging with regression SNP LD, 1203548 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.1316 (0.0046)
Lambda GC: 2.0747
Mean Chi^2: 3.115
Intercept: 1.1505 (0.0196)
Ratio: 0.0712 (0.0093)
Analysis finished at Thu Aug 20 17:47:41 2020
Total time elapsed: 2.0m:28.94s

QC metrics

Metrics

Metrics

{
    "af_correlation": 0.9402,
    "inflation_factor": 1.916,
    "mean_EFFECT": -0.0009,
    "n": 745787,
    "n_snps": 7088083,
    "n_clumped_hits": 461,
    "n_p_sig": 74356,
    "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": 44712,
    "n_est": 741766.9694,
    "ratio_se_n": 0.9973,
    "mean_diff": 0.0008,
    "ratio_diff": 5537.3609,
    "sd_y_est1": 18.6199,
    "sd_y_est2": 18.5696,
    "r2_sum1": 15.8295,
    "r2_sum2": 0.0457,
    "r2_sum3": 0.0459,
    "r2_sum4": 0.0458,
    "ldsc_nsnp_merge_refpanel_ld": 1203548,
    "ldsc_nsnp_merge_regression_ld": 1203548,
    "ldsc_observed_scale_h2_beta": 0.1316,
    "ldsc_observed_scale_h2_se": 0.0046,
    "ldsc_intercept_beta": 1.1505,
    "ldsc_intercept_se": 0.0196,
    "ldsc_lambda_gc": 2.0747,
    "ldsc_mean_chisq": 3.115,
    "ldsc_ratio": 0.0712
}
 

Flags

name value
af_correlation FALSE
inflation_factor TRUE
n FALSE
is_snpid_non_unique TRUE
mean_EFFECT_nonfinite FALSE
mean_EFFECT_05 FALSE
mean_EFFECT_01 FALSE
mean_chisq TRUE
n_p_sig TRUE
miss_EFFECT FALSE
miss_SE FALSE
miss_PVAL FALSE
ldsc_ratio FALSE
ldsc_intercept_beta FALSE
n_clumped_hits FALSE
r2_sum1 TRUE
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 58 0 7088074 0 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
character ALT 0 1.0000000 1 1 0 4 0 NA NA NA NA NA NA NA NA
numeric CHROM 0 1.0000000 NA NA NA NA NA 8.618154e+00 5.733636e+00 1.00000e+00 4.000000e+00 8.000000e+00 1.300000e+01 2.200000e+01 ▇▅▅▂▂
numeric POS 0 1.0000000 NA NA NA NA NA 7.894880e+07 5.615450e+07 6.68900e+03 3.267243e+07 6.967551e+07 1.145593e+08 2.492183e+08 ▇▆▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA -8.712000e-04 9.071510e-02 -1.38380e+00 -4.650000e-02 -5.000000e-04 4.540000e-02 1.228700e+00 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA 5.701510e-02 3.150200e-02 1.70000e-03 3.310000e-02 4.330000e-02 7.110000e-02 2.045000e-01 ▇▆▂▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA 3.951111e-01 3.121712e-01 0.00000e+00 9.858930e-02 3.505000e-01 6.621997e-01 1.000000e+00 ▇▃▃▃▃
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA 3.951113e-01 3.121717e-01 0.00000e+00 9.858650e-02 3.505209e-01 6.621761e-01 1.000000e+00 ▇▃▃▃▃
numeric AF 0 1.0000000 NA NA NA NA NA 2.688679e-01 2.606549e-01 1.00000e-02 5.330000e-02 1.707000e-01 4.236000e-01 9.900000e-01 ▇▃▂▁▁
numeric AF_reference 44712 0.9936919 NA NA NA NA NA 2.681288e-01 2.522186e-01 1.99700e-04 6.170130e-02 1.827080e-01 4.167330e-01 1.000000e+00 ▇▃▂▂▁
numeric N 0 1.0000000 NA NA NA NA NA 7.133146e+05 3.094613e+04 2.53159e+05 7.058510e+05 7.253300e+05 7.331190e+05 7.457870e+05 ▁▁▁▁▇

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 752566 rs3094315 G A 0.0687 0.0447 0.1240001 0.1243147 0.8363 0.7182510 639410
1 885689 rs4970452 G A 0.2350 0.0727 0.0012340 0.0012273 0.9463 0.9384980 629875
1 885699 rs4970376 A G 0.2403 0.0724 0.0009015 0.0009032 0.9456 0.9219250 630477
1 886006 rs4970375 T C 0.2408 0.0723 0.0008683 0.0008667 0.9457 0.9221250 632092
1 887801 rs3828047 A G 0.2382 0.0720 0.0009413 0.0009385 0.9456 0.9223240 635922
1 888639 rs3748596 T C 0.2472 0.0725 0.0006506 0.0006505 0.9458 0.9227240 637170
1 888659 rs3748597 T C 0.2323 0.0716 0.0011830 0.0011769 0.9453 0.9227240 639044
1 889238 rs3828049 G A -0.2282 0.0726 0.0016700 0.0016708 0.0530 0.0565096 640081
1 892745 rs13303227 G A 0.2401 0.0721 0.0008727 0.0008682 0.9454 0.9207270 632219
1 893280 rs4970371 G A 0.2378 0.0726 0.0010530 0.0010548 0.9465 0.9390970 634520
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
22 51171667 rs41281537 G A -0.1177 0.1127 0.2963999 0.2963163 0.0215 0.0577077 646222
22 51171693 rs756638 G A 0.0064 0.0353 0.8555000 0.8561297 0.2776 0.3049120 677882
22 51171783 rs115712102 C T 0.0114 0.1471 0.9380999 0.9382271 0.0137 0.0067891 594466
22 51172460 rs5770824 T C -0.0858 0.1112 0.4405995 0.4403616 0.0225 0.0684904 628868
22 51174331 rs5770825 C G 0.0051 0.0403 0.8993000 0.8992959 0.7636 0.7917330 580912
22 51174662 rs1858748 T C 0.0127 0.0383 0.7393005 0.7401968 0.7312 0.7328270 591495
22 51175626 rs3810648 A G 0.0293 0.0635 0.6447005 0.6444992 0.0613 0.1084270 731429
22 51177257 rs73174437 C T -0.0150 0.0908 0.8685000 0.8687880 0.0348 0.0091853 640640
22 51178090 rs2285395 G A 0.0247 0.0680 0.7166003 0.7164291 0.0549 0.0666933 710879
22 51182399 rs56238942 A G 0.0108 0.0628 0.8637000 0.8634576 0.0770 0.0992412 611720

bcf preview

1   752566  rs3094315   G   A   .   PASS    AF=0.8363   ES:SE:LP:AF:SS:ID   0.0687:0.0447:0.906578:0.8363:639410:rs3094315
1   885689  rs533420572 G   A   .   PASS    AF=0.9463   ES:SE:LP:AF:SS:ID   0.235:0.0727:2.90868:0.9463:629875:rs533420572
1   885699  rs1387393173    A   G   .   PASS    AF=0.9456   ES:SE:LP:AF:SS:ID   0.2403:0.0724:3.04503:0.9456:630477:rs1387393173
1   886006  rs1430555697    T   C   .   PASS    AF=0.9457   ES:SE:LP:AF:SS:ID   0.2408:0.0723:3.06133:0.9457:632092:rs1430555697
1   887801  rs3828047   A   G   .   PASS    AF=0.9456   ES:SE:LP:AF:SS:ID   0.2382:0.072:3.02627:0.9456:635922:rs3828047
1   888639  rs3748596   T   C   .   PASS    AF=0.9458   ES:SE:LP:AF:SS:ID   0.2472:0.0725:3.18669:0.9458:637170:rs3748596
1   888659  rs3748597   T   C   .   PASS    AF=0.9453   ES:SE:LP:AF:SS:ID   0.2323:0.0716:2.92702:0.9453:639044:rs3748597
1   889238  rs3828049   G   A   .   PASS    AF=0.053    ES:SE:LP:AF:SS:ID   -0.2282:0.0726:2.77728:0.053:640081:rs3828049
1   892745  rs13303227  G   A   .   PASS    AF=0.9454   ES:SE:LP:AF:SS:ID   0.2401:0.0721:3.05913:0.9454:632219:rs13303227
1   893280  rs4970371   G   A   .   PASS    AF=0.9465   ES:SE:LP:AF:SS:ID   0.2378:0.0726:2.97757:0.9465:634520:rs4970371
1   918384  rs13303118  G   T   .   PASS    AF=0.5818   ES:SE:LP:AF:SS:ID   0.0533:0.0332:0.961777:0.5818:633345:rs13303118
1   918573  rs2341354   A   G   .   PASS    AF=0.5896   ES:SE:LP:AF:SS:ID   0.0518:0.0333:0.919374:0.5896:634595:rs2341354
1   924898  rs6665000   C   A   .   PASS    AF=0.9642   ES:SE:LP:AF:SS:ID   0.3172:0.0895:3.40594:0.9642:627215:rs6665000
1   926351  rs6671243   C   T   .   PASS    AF=0.9641   ES:SE:LP:AF:SS:ID   0.3092:0.0894:3.26289:0.9641:627230:rs6671243
1   926431  rs4970403   A   T   .   PASS    AF=0.9641   ES:SE:LP:AF:SS:ID   0.3046:0.0894:3.18535:0.9641:627575:rs4970403
1   926621  rs4970351   A   C   .   PASS    AF=0.9641   ES:SE:LP:AF:SS:ID   0.3099:0.0894:3.27671:0.9641:626806:rs4970351
1   928578  rs28394749  G   A   .   PASS    AF=0.9641   ES:SE:LP:AF:SS:ID   0.3071:0.0894:3.22952:0.9641:629535:rs28394749
1   928836  rs9777703   C   T   .   PASS    AF=0.964    ES:SE:LP:AF:SS:ID   0.305:0.0892:3.20183:0.964:630400:rs9777703
1   929327  rs386627424 A   G   .   PASS    AF=0.964    ES:SE:LP:AF:SS:ID   0.3015:0.0894:3.12656:0.964:626510:rs386627424
1   940005  rs2799056   A   G   .   PASS    AF=0.3985   ES:SE:LP:AF:SS:ID   -0.0344:0.0335:0.516984:0.3985:628273:rs2799056
1   940096  rs4503294   C   T   .   PASS    AF=0.5651   ES:SE:LP:AF:SS:ID   0.0786:0.0331:1.75696:0.5651:628055:rs4503294
1   941284  rs3128116   C   T   .   PASS    AF=0.3952   ES:SE:LP:AF:SS:ID   -0.0367:0.0333:0.567031:0.3952:634220:rs3128116
1   941334  rs57683598  G   A   .   PASS    AF=0.395    ES:SE:LP:AF:SS:ID   -0.0377:0.0333:0.588044:0.395:634796:rs57683598
1   941539  rs9778087   C   T   .   PASS    AF=0.3993   ES:SE:LP:AF:SS:ID   -0.0385:0.0334:0.603626:0.3993:630132:rs9778087
1   943687  rs2465140   G   C   .   PASS    AF=0.3948   ES:SE:LP:AF:SS:ID   -0.0359:0.033:0.556737:0.3948:644433:rs2465140
1   943968  rs1378202313    C   T   .   PASS    AF=0.5646   ES:SE:LP:AF:SS:ID   0.0822:0.0327:1.92263:0.5646:640164:rs1378202313
1   944564  rs3128117   T   C   .   PASS    AF=0.3961   ES:SE:LP:AF:SS:ID   -0.035:0.0329:0.540457:0.3961:647670:rs3128117
1   949608  rs1921  G   A   .   PASS    AF=0.3968   ES:SE:LP:AF:SS:ID   -0.0243:0.0326:0.341321:0.3968:659404:rs1921
1   950243  rs1891906   A   C   .   PASS    AF=0.3935   ES:SE:LP:AF:SS:ID   -0.0346:0.0328:0.533577:0.3935:651118:rs1891906
1   950677  rs9331223   T   C   .   PASS    AF=0.5665   ES:SE:LP:AF:SS:ID   0.085:0.0326:2.03485:0.5665:643771:rs9331223
1   951564  rs2465141   A   G   .   PASS    AF=0.3901   ES:SE:LP:AF:SS:ID   -0.0399:0.0333:0.635074:0.3901:636420:rs2465141
1   952003  rs3128118   G   A   .   PASS    AF=0.3893   ES:SE:LP:AF:SS:ID   -0.0383:0.0331:0.605548:0.3893:644616:rs3128118
1   952428  rs9442611   G   A   .   PASS    AF=0.5535   ES:SE:LP:AF:SS:ID   0.0963:0.0329:2.46648:0.5535:631745:rs9442611
1   953952  rs9442612   G   A   .   PASS    AF=0.5544   ES:SE:LP:AF:SS:ID   0.1057:0.033:2.87031:0.5544:629628:rs9442612
1   954032  rs75267490  C   G   .   PASS    AF=0.3423   ES:SE:LP:AF:SS:ID   -0.0482:0.0345:0.788879:0.3423:629830:rs75267490
1   954777  rs61766299  C   A   .   PASS    AF=0.5539   ES:SE:LP:AF:SS:ID   0.1013:0.033:2.66999:0.5539:628854:rs61766299
1   956852  rs9777931   C   T   .   PASS    AF=0.5499   ES:SE:LP:AF:SS:ID   0.1054:0.0328:2.8755:0.5499:632762:rs9777931
1   957120  rs3121553   G   C   .   PASS    AF=0.3432   ES:SE:LP:AF:SS:ID   -0.0507:0.0345:0.84649:0.3432:629011:rs3121553
1   957898  rs2799064   G   T   .   PASS    AF=0.3506   ES:SE:LP:AF:SS:ID   -0.053:0.0344:0.909037:0.3506:627456:rs2799064
1   958248  rs2001744   A   G   .   PASS    AF=0.3689   ES:SE:LP:AF:SS:ID   -0.0812:0.034:1.77083:0.3689:628689:rs2001744
1   958731  rs2341363   A   G   .   PASS    AF=0.3707   ES:SE:LP:AF:SS:ID   -0.0772:0.0339:1.64035:0.3707:630644:rs2341363
1   958905  rs2710890   A   G   .   PASS    AF=0.3713   ES:SE:LP:AF:SS:ID   -0.0777:0.0339:1.65857:0.3713:631280:rs2710890
1   959169  rs3845292   G   C   .   PASS    AF=0.545    ES:SE:LP:AF:SS:ID   0.0957:0.033:2.42643:0.545:626810:rs3845292
1   960409  rs1284216646    G   C   .   PASS    AF=0.5597   ES:SE:LP:AF:SS:ID   0.1078:0.0329:2.97675:0.5597:633296:rs1284216646
1   962606  rs4970393   G   A   .   PASS    AF=0.5734   ES:SE:LP:AF:SS:ID   0.1039:0.0331:2.76751:0.5734:631044:rs4970393
1   962891  rs4970394   C   T   .   PASS    AF=0.5781   ES:SE:LP:AF:SS:ID   0.0973:0.0332:2.46993:0.5781:629754:rs4970394
1   967658  rs4970349   C   T   .   PASS    AF=0.5683   ES:SE:LP:AF:SS:ID   0.1082:0.0329:2.99183:0.5683:634988:rs4970349
1   984302  rs9442391   T   C   .   PASS    AF=0.5751   ES:SE:LP:AF:SS:ID   0.0743:0.0332:1.60171:0.5751:628719:rs9442391
1   990380  rs3121561   C   T   .   PASS    AF=0.2894   ES:SE:LP:AF:SS:ID   -0.0303:0.0365:0.390726:0.2894:618981:rs3121561
1   990417  rs2465136   T   C   .   PASS    AF=0.295    ES:SE:LP:AF:SS:ID   -0.0328:0.0362:0.43866:0.295:621761:rs2465136