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=ieu-a-1021,TotalVariants=2005933,VariantsNotRead=0,HarmonisedVariants=2005933,VariantsNotHarmonised=0,SwitchedAlleles=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/ieu-a-import/processed/ieu-a-1021/ieu-a-1021_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
    "file_date": "2020-02-04T08:47:06.873237",
    "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/ieu-a-import/processed/ieu-a-1021/ieu-a-1021.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1021/ieu-a-1021_data.vcf.gz; Date=Tue Feb  4 19:20:27 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/ieu-a-1021/ieu-a-1021.vcf.gz; Date=Sun May 10 08:01:39 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/ieu-a-import/processed/ieu-a-1021/ieu-a-1021.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/ieu-a-import/processed/ieu-a-1021/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ 

Beginning analysis at Wed Feb  5 10:56:10 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1021/ieu-a-1021.vcf.gz ...
Read summary statistics for 2005933 SNPs.
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, 999865 SNPs remain.
After merging with regression SNP LD, 999865 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: -0.145 (0.1592)
Lambda GC: 1.0162
Mean Chi^2: 1.0079
Intercept: 1.0153 (0.0072)
Ratio: 1.9522 (0.9206)
Analysis finished at Wed Feb  5 10:56:37 2020
Total time elapsed: 26.69s

QC metrics

Metrics

Metrics

{
    "af_correlation": 0.8703,
    "inflation_factor": 1.0161,
    "mean_EFFECT": 0.0004,
    "n": 2469,
    "n_snps": 2005933,
    "n_clumped_hits": 0,
    "n_p_sig": 0,
    "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": 14768,
    "n_est": 2449.3377,
    "ratio_se_n": 0.996,
    "mean_diff": -0,
    "ratio_diff": 8.7405,
    "sd_y_est1": 1.0965,
    "sd_y_est2": 1.0922,
    "r2_sum1": 0,
    "r2_sum2": 0,
    "r2_sum3": 0,
    "r2_sum4": 0,
    "ldsc_nsnp_merge_refpanel_ld": 999865,
    "ldsc_nsnp_merge_regression_ld": 999865,
    "ldsc_observed_scale_h2_beta": "NA",
    "ldsc_observed_scale_h2_se": "NA",
    "ldsc_intercept_beta": 1.0153,
    "ldsc_intercept_se": 0.0072,
    "ldsc_lambda_gc": 1.0162,
    "ldsc_mean_chisq": 1.0079,
    "ldsc_ratio": 1.9367
}
 

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 TRUE
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 42 0 2005933 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 8.508659e+00 5.624844e+00 1.0000e+00 4.000000e+00 8.000000e+00 1.200000e+01 2.300000e+01 ▇▅▅▂▂
numeric POS 0 1.0000000 NA NA NA NA NA 7.942183e+07 5.565525e+07 6.6890e+03 3.329494e+07 7.085136e+07 1.149588e+08 2.492086e+08 ▇▇▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA 4.171000e-04 5.097840e-02 -6.2097e-01 -2.759600e-02 3.662000e-04 2.805300e-02 5.509400e-01 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA 4.596860e-02 2.184260e-02 2.6525e-02 3.253900e-02 3.708900e-02 4.960800e-02 2.173600e-01 ▇▁▁▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA 4.982668e-01 2.886842e-01 9.0000e-07 2.479602e-01 4.965797e-01 7.481902e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA 4.982667e-01 2.886842e-01 9.0000e-07 2.479636e-01 4.965824e-01 7.481832e-01 1.000000e+00 ▇▇▇▇▇
numeric AF 0 1.0000000 NA NA NA NA NA 3.880711e-01 2.765616e-01 1.0001e-02 1.469300e-01 3.348900e-01 5.988900e-01 9.899990e-01 ▇▆▅▃▃
numeric AF_reference 14768 0.9926378 NA NA NA NA NA 3.746055e-01 2.393242e-01 1.9970e-04 1.737220e-01 3.250800e-01 5.503190e-01 9.984030e-01 ▇▇▅▃▂
numeric N 0 1.0000000 NA NA NA NA NA 2.469000e+03 0.000000e+00 2.4690e+03 2.469000e+03 2.469000e+03 2.469000e+03 2.469000e+03 ▁▁▇▁▁

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 721290 rs12565286 G C -0.0372520 0.100060 0.7096693 0.7096720 0.024964 0.0371406 2469
1 740857 rs12082473 G A -0.0386910 0.103030 0.7072696 0.7072653 0.023504 0.0585064 2469
1 752566 rs3094315 G A 0.0212100 0.052761 0.6876794 0.6876829 0.907407 0.7182510 2469
1 761732 rs2286139 C T 0.0341260 0.040360 0.3978002 0.3978093 0.790300 0.6257990 2469
1 777122 rs2980319 A T 0.0498550 0.056094 0.3741304 0.3741235 0.911681 0.7472040 2469
1 779322 rs4040617 A G -0.0509380 0.056716 0.3691204 0.3691195 0.087522 0.2264380 2469
1 785050 rs2905062 G A 0.0087003 0.036631 0.8122601 0.8122597 0.742220 0.6269970 2469
1 785989 rs2980300 T C 0.0098980 0.035763 0.7819608 0.7819594 0.740660 0.6269970 2469
1 798959 rs11240777 G A -0.0015443 0.032307 0.9618800 0.9618750 0.362270 0.4099440 2469
1 888659 rs3748597 T C 0.0103300 0.058767 0.8604699 0.8604676 0.919401 0.9227240 2469
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
22 51162059 rs10451 G A -0.0530160 0.032078 0.0983830 0.0983876 0.398100 0.3865810 2469
22 51163138 rs715586 C T 0.0678730 0.047336 0.1516202 0.1516134 0.113250 0.0902556 2469
22 51165664 rs8137951 G A -0.0413820 0.030776 0.1787500 0.1787482 0.428060 0.4063500 2469
22 51175626 rs3810648 A G 0.0364550 0.074268 0.6235295 0.6235273 0.044160 0.1084270 2469
22 51186228 rs3865766 C T 0.0148030 0.030811 0.6309094 0.6309108 0.405000 0.4532750 2469
22 51212875 rs2238837 A C 0.0122100 0.031501 0.6982999 0.6983071 0.371060 0.3724040 2469
22 51213613 rs34726907 C T -0.0037858 0.057168 0.9472000 0.9472008 0.077372 0.1727240 2469
22 51219006 rs28729663 G A 0.0220910 0.049019 0.6522303 0.6522332 0.116430 0.2052720 2469
23 51666786 rs14115 A G 0.0300890 0.055228 0.5858899 0.5858813 0.087607 NA 2469
23 118495837 rs12882977 G A -0.0608730 0.082322 0.4596402 0.4596338 0.038127 0.2307280 2469

bcf preview

1   721290  rs12565286  G   C   .   PASS    AF=0.024964 ES:SE:LP:AF:SS:ID   -0.037252:0.10006:0.148944:0.024964:2469:rs12565286
1   740857  rs12082473  G   A   .   PASS    AF=0.023504 ES:SE:LP:AF:SS:ID   -0.038691:0.10303:0.150415:0.023504:2469:rs12082473
1   752566  rs3094315   G   A   .   PASS    AF=0.907407 ES:SE:LP:AF:SS:ID   0.02121:0.052761:0.162614:0.907407:2469:rs3094315
1   761732  rs2286139   C   T   .   PASS    AF=0.7903   ES:SE:LP:AF:SS:ID   0.034126:0.04036:0.400335:0.7903:2469:rs2286139
1   777122  rs2980319   A   T   .   PASS    AF=0.911681 ES:SE:LP:AF:SS:ID   0.049855:0.056094:0.426977:0.911681:2469:rs2980319
1   779322  rs4040617   A   G   .   PASS    AF=0.087522 ES:SE:LP:AF:SS:ID   -0.050938:0.056716:0.432832:0.087522:2469:rs4040617
1   785050  rs2905062   G   A   .   PASS    AF=0.74222  ES:SE:LP:AF:SS:ID   0.0087003:0.036631:0.0903049:0.74222:2469:rs2905062
1   785989  rs2980300   T   C   .   PASS    AF=0.74066  ES:SE:LP:AF:SS:ID   0.009898:0.035763:0.106815:0.74066:2469:rs2980300
1   798959  rs11240777  G   A   .   PASS    AF=0.36227  ES:SE:LP:AF:SS:ID   -0.0015443:0.032307:0.0168791:0.36227:2469:rs11240777
1   888659  rs3748597   T   C   .   PASS    AF=0.919401 ES:SE:LP:AF:SS:ID   0.01033:0.058767:0.0652643:0.919401:2469:rs3748597
1   918573  rs2341354   A   G   .   PASS    AF=0.82123  ES:SE:LP:AF:SS:ID   0.0022275:0.040527:0.0194649:0.82123:2469:rs2341354
1   926431  rs4970403   A   T   .   PASS    AF=0.957917 ES:SE:LP:AF:SS:ID   0.061385:0.078645:0.361441:0.957917:2469:rs4970403
1   947034  rs2465126   G   A   .   PASS    AF=0.934473 ES:SE:LP:AF:SS:ID   0.030202:0.064622:0.193657:0.934473:2469:rs2465126
1   949608  rs1921  G   A   .   PASS    AF=0.19231  ES:SE:LP:AF:SS:ID   0.024558:0.038941:0.277144:0.19231:2469:rs1921
1   990417  rs2465136   T   C   .   PASS    AF=0.16738  ES:SE:LP:AF:SS:ID   0.010976:0.040822:0.103457:0.16738:2469:rs2465136
1   990839  rs13129 C   T   .   PASS    AF=0.026429 ES:SE:LP:AF:SS:ID   -0.034518:0.097499:0.14067:0.026429:2469:rs13129
1   1003629 rs4075116   C   T   .   PASS    AF=0.912072 ES:SE:LP:AF:SS:ID   -0.060041:0.056992:0.534439:0.912072:2469:rs4075116
1   1017170 rs3766193   C   G   .   PASS    AF=0.7815   ES:SE:LP:AF:SS:ID   -0.036165:0.041388:0.417687:0.7815:2469:rs3766193
1   1017197 rs3766192   C   T   .   PASS    AF=0.78218  ES:SE:LP:AF:SS:ID   -0.042394:0.041576:0.511604:0.78218:2469:rs3766192
1   1018562 rs9442371   C   T   .   PASS    AF=0.78524  ES:SE:LP:AF:SS:ID   -0.038561:0.040332:0.469762:0.78524:2469:rs9442371
1   1018704 rs9442372   A   G   .   PASS    AF=0.80535  ES:SE:LP:AF:SS:ID   -0.04437:0.041132:0.551758:0.80535:2469:rs9442372
1   1022037 rs6701114   C   T   .   PASS    AF=0.7862   ES:SE:LP:AF:SS:ID   -0.032344:0.041281:0.363181:0.7862:2469:rs6701114
1   1036959 rs11579015  T   C   .   PASS    AF=0.17655  ES:SE:LP:AF:SS:ID   0.009857:0.043309:0.0862073:0.17655:2469:rs11579015
1   1041700 rs6604968   A   G   .   PASS    AF=0.18091  ES:SE:LP:AF:SS:ID   0.0256:0.039124:0.289976:0.18091:2469:rs6604968
1   1048955 rs4970405   A   G   .   PASS    AF=0.14672  ES:SE:LP:AF:SS:ID   -0.00063614:0.042647:0.0051991:0.14672:2469:rs4970405
1   1097335 rs9442385   T   G   .   PASS    AF=0.59559  ES:SE:LP:AF:SS:ID   -0.023567:0.031224:0.346421:0.59559:2469:rs9442385
1   1099342 rs9660710   A   C   .   PASS    AF=0.58159  ES:SE:LP:AF:SS:ID   -0.022434:0.032413:0.310807:0.58159:2469:rs9660710
1   1121014 rs3813204   G   A   .   PASS    AF=0.53962  ES:SE:LP:AF:SS:ID   0.025214:0.034326:0.334766:0.53962:2469:rs3813204
1   1121794 rs11260549  G   A   .   PASS    AF=0.56149  ES:SE:LP:AF:SS:ID   0.025566:0.032843:0.360205:0.56149:2469:rs11260549
1   1125553 rs10907174  A   T   .   PASS    AF=0.7491   ES:SE:LP:AF:SS:ID   -0.0055108:0.035927:0.056461:0.7491:2469:rs10907174
1   1129672 rs11260554  G   T   .   PASS    AF=0.58226  ES:SE:LP:AF:SS:ID   0.025156:0.031194:0.376751:0.58226:2469:rs11260554
1   1130727 rs10907175  A   C   .   PASS    AF=0.17023  ES:SE:LP:AF:SS:ID   -0.049062:0.040893:0.637838:0.17023:2469:rs10907175
1   1156131 rs2887286   T   C   .   PASS    AF=0.83832  ES:SE:LP:AF:SS:ID   0.022785:0.042411:0.228332:0.83832:2469:rs2887286
1   1158277 rs3813199   G   A   .   PASS    AF=0.19017  ES:SE:LP:AF:SS:ID   -0.016735:0.039734:0.171579:0.19017:2469:rs3813199
1   1162435 rs3766186   C   A   .   PASS    AF=0.18837  ES:SE:LP:AF:SS:ID   -0.014705:0.040401:0.145166:0.18837:2469:rs3766186
1   1163804 rs7515488   C   T   .   PASS    AF=0.19659  ES:SE:LP:AF:SS:ID   -0.0084638:0.040212:0.0791986:0.19659:2469:rs7515488
1   1165310 rs11260562  G   A   .   PASS    AF=0.015692 ES:SE:LP:AF:SS:ID   0.041459:0.11972:0.137201:0.015692:2469:rs11260562
1   1176597 rs6675798   T   C   .   PASS    AF=0.18598  ES:SE:LP:AF:SS:ID   -0.000636:0.043604:0.00508484:0.18598:2469:rs6675798
1   1195690 rs11260568  G   C   .   PASS    AF=0.081909 ES:SE:LP:AF:SS:ID   0.090001:0.056077:0.96457:0.081909:2469:rs11260568
1   1198618 rs12563338  T   A   .   PASS    AF=0.60256  ES:SE:LP:AF:SS:ID   0.0021624:0.032377:0.0237647:0.60256:2469:rs12563338
1   1203938 rs4018608   T   C   .   PASS    AF=0.60076  ES:SE:LP:AF:SS:ID   0.0017351:0.032481:0.0189066:0.60076:2469:rs4018608
1   1211292 rs6685064   C   T   .   PASS    AF=0.59117  ES:SE:LP:AF:SS:ID   -0.0036382:0.032067:0.0411161:0.59117:2469:rs6685064
1   1217058 rs3753340   G   A   .   PASS    AF=0.01361  ES:SE:LP:AF:SS:ID   0.19465:0.12774:0.894217:0.01361:2469:rs3753340
1   1218086 rs6603788   C   T   .   PASS    AF=0.60328  ES:SE:LP:AF:SS:ID   0.015195:0.032552:0.193372:0.60328:2469:rs6603788
1   1242468 rs2274264   G   A   .   PASS    AF=0.57929  ES:SE:LP:AF:SS:ID   -0.034489:0.031938:0.552547:0.57929:2469:rs2274264
1   1268847 rs307378    T   G   .   PASS    AF=0.914956 ES:SE:LP:AF:SS:ID   -0.074016:0.0572:0.708476:0.914956:2469:rs307378
1   1297065 rs2765023   C   T   .   PASS    AF=0.79986  ES:SE:LP:AF:SS:ID   -0.01302:0.03856:0.133341:0.79986:2469:rs2765023
1   1297422 rs2765021   C   T   .   PASS    AF=0.81125  ES:SE:LP:AF:SS:ID   -0.032281:0.039046:0.388925:0.81125:2469:rs2765021
1   1311716 rs2649589   G   A   .   PASS    AF=0.88993  ES:SE:LP:AF:SS:ID   -0.068729:0.051043:0.749214:0.88993:2469:rs2649589
1   1421531 rs819976    C   A   .   PASS    AF=0.62717  ES:SE:LP:AF:SS:ID   0.0058259:0.032475:0.0667:0.62717:2469:rs819976