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=UKB-b:15287,TotalVariants=9851866,VariantsNotRead=0,HarmonisedVariants=9851866,VariantsNotHarmonised=0,SwitchedAlleles=9851866,TotalControls=63167,TotalCases=1782,StudyType=CaseControl>",
"contig": "<ID=1,length=249250621,assembly=GRCh37>",
"contig.1": "<ID=2,length=243199373,assembly=GRCh37>",
"contig.2": "<ID=3,length=198022430,assembly=GRCh37>",
"contig.3": "<ID=4,length=191154276,assembly=GRCh37>",
"contig.4": "<ID=5,length=180915260,assembly=GRCh37>",
"contig.5": "<ID=6,length=171115067,assembly=GRCh37>",
"contig.6": "<ID=7,length=159138663,assembly=GRCh37>",
"contig.7": "<ID=8,length=146364022,assembly=GRCh37>",
"contig.8": "<ID=9,length=141213431,assembly=GRCh37>",
"contig.9": "<ID=10,length=135534747,assembly=GRCh37>",
"contig.10": "<ID=11,length=135006516,assembly=GRCh37>",
"contig.11": "<ID=12,length=133851895,assembly=GRCh37>",
"contig.12": "<ID=13,length=115169878,assembly=GRCh37>",
"contig.13": "<ID=14,length=107349540,assembly=GRCh37>",
"contig.14": "<ID=15,length=102531392,assembly=GRCh37>",
"contig.15": "<ID=16,length=90354753,assembly=GRCh37>",
"contig.16": "<ID=17,length=81195210,assembly=GRCh37>",
"contig.17": "<ID=18,length=78077248,assembly=GRCh37>",
"contig.18": "<ID=19,length=59128983,assembly=GRCh37>",
"contig.19": "<ID=20,length=63025520,assembly=GRCh37>",
"contig.20": "<ID=21,length=48129895,assembly=GRCh37>",
"contig.21": "<ID=22,length=51304566,assembly=GRCh37>",
"contig.22": "<ID=X,length=155270560,assembly=GRCh37>",
"contig.23": "<ID=Y,length=59373566,assembly=GRCh37>",
"contig.24": "<ID=MT,length=16569,assembly=GRCh37>",
"contig.25": "<ID=GL000207.1,length=4262,assembly=GRCh37>",
"contig.26": "<ID=GL000226.1,length=15008,assembly=GRCh37>",
"contig.27": "<ID=GL000229.1,length=19913,assembly=GRCh37>",
"contig.28": "<ID=GL000231.1,length=27386,assembly=GRCh37>",
"contig.29": "<ID=GL000210.1,length=27682,assembly=GRCh37>",
"contig.30": "<ID=GL000239.1,length=33824,assembly=GRCh37>",
"contig.31": "<ID=GL000235.1,length=34474,assembly=GRCh37>",
"contig.32": "<ID=GL000201.1,length=36148,assembly=GRCh37>",
"contig.33": "<ID=GL000247.1,length=36422,assembly=GRCh37>",
"contig.34": "<ID=GL000245.1,length=36651,assembly=GRCh37>",
"contig.35": "<ID=GL000197.1,length=37175,assembly=GRCh37>",
"contig.36": "<ID=GL000203.1,length=37498,assembly=GRCh37>",
"contig.37": "<ID=GL000246.1,length=38154,assembly=GRCh37>",
"contig.38": "<ID=GL000249.1,length=38502,assembly=GRCh37>",
"contig.39": "<ID=GL000196.1,length=38914,assembly=GRCh37>",
"contig.40": "<ID=GL000248.1,length=39786,assembly=GRCh37>",
"contig.41": "<ID=GL000244.1,length=39929,assembly=GRCh37>",
"contig.42": "<ID=GL000238.1,length=39939,assembly=GRCh37>",
"contig.43": "<ID=GL000202.1,length=40103,assembly=GRCh37>",
"contig.44": "<ID=GL000234.1,length=40531,assembly=GRCh37>",
"contig.45": "<ID=GL000232.1,length=40652,assembly=GRCh37>",
"contig.46": "<ID=GL000206.1,length=41001,assembly=GRCh37>",
"contig.47": "<ID=GL000240.1,length=41933,assembly=GRCh37>",
"contig.48": "<ID=GL000236.1,length=41934,assembly=GRCh37>",
"contig.49": "<ID=GL000241.1,length=42152,assembly=GRCh37>",
"contig.50": "<ID=GL000243.1,length=43341,assembly=GRCh37>",
"contig.51": "<ID=GL000242.1,length=43523,assembly=GRCh37>",
"contig.52": "<ID=GL000230.1,length=43691,assembly=GRCh37>",
"contig.53": "<ID=GL000237.1,length=45867,assembly=GRCh37>",
"contig.54": "<ID=GL000233.1,length=45941,assembly=GRCh37>",
"contig.55": "<ID=GL000204.1,length=81310,assembly=GRCh37>",
"contig.56": "<ID=GL000198.1,length=90085,assembly=GRCh37>",
"contig.57": "<ID=GL000208.1,length=92689,assembly=GRCh37>",
"contig.58": "<ID=GL000191.1,length=106433,assembly=GRCh37>",
"contig.59": "<ID=GL000227.1,length=128374,assembly=GRCh37>",
"contig.60": "<ID=GL000228.1,length=129120,assembly=GRCh37>",
"contig.61": "<ID=GL000214.1,length=137718,assembly=GRCh37>",
"contig.62": "<ID=GL000221.1,length=155397,assembly=GRCh37>",
"contig.63": "<ID=GL000209.1,length=159169,assembly=GRCh37>",
"contig.64": "<ID=GL000218.1,length=161147,assembly=GRCh37>",
"contig.65": "<ID=GL000220.1,length=161802,assembly=GRCh37>",
"contig.66": "<ID=GL000213.1,length=164239,assembly=GRCh37>",
"contig.67": "<ID=GL000211.1,length=166566,assembly=GRCh37>",
"contig.68": "<ID=GL000199.1,length=169874,assembly=GRCh37>",
"contig.69": "<ID=GL000217.1,length=172149,assembly=GRCh37>",
"contig.70": "<ID=GL000216.1,length=172294,assembly=GRCh37>",
"contig.71": "<ID=GL000215.1,length=172545,assembly=GRCh37>",
"contig.72": "<ID=GL000205.1,length=174588,assembly=GRCh37>",
"contig.73": "<ID=GL000219.1,length=179198,assembly=GRCh37>",
"contig.74": "<ID=GL000224.1,length=179693,assembly=GRCh37>",
"contig.75": "<ID=GL000223.1,length=180455,assembly=GRCh37>",
"contig.76": "<ID=GL000195.1,length=182896,assembly=GRCh37>",
"contig.77": "<ID=GL000212.1,length=186858,assembly=GRCh37>",
"contig.78": "<ID=GL000222.1,length=186861,assembly=GRCh37>",
"contig.79": "<ID=GL000200.1,length=187035,assembly=GRCh37>",
"contig.80": "<ID=GL000193.1,length=189789,assembly=GRCh37>",
"contig.81": "<ID=GL000194.1,length=191469,assembly=GRCh37>",
"contig.82": "<ID=GL000225.1,length=211173,assembly=GRCh37>",
"contig.83": "<ID=GL000192.1,length=547496,assembly=GRCh37>",
"gwas_harmonisation_command": "--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/vcf_09_19b/bgzip_vcf/data.batch_20088_340.vcf.gz --id UKB-b:15287 --data /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/raw-output/data.batch_20088_340.txt.gz --cohort_cases 1782 --cohort_controls 63167 --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/human_g1k_v37.fasta --json /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/ukb_gwas.json; 1.1.1",
"file_date": "2019-09-13T13:39:43.274124",
"bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_viewCommand": "view -T ^/mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-15287/mac_discard.txt -Oz /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-15287/UKB-b-15287_raw.vcf.gz; Date=Thu Oct 17 12:31:38 2019",
"bcftools_viewCommand.1": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukb-b-15287/ukb-b-15287.vcf.gz; Date=Sun May 10 06:49:46 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/public/UKB-b-15287/UKB-b-15287_data.vcf.gz \
--ref-ld-chr ../reference/eur_w_ld_chr/ \
--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-15287/ldsc.txt \
--w-ld-chr ../reference/eur_w_ld_chr/
Beginning analysis at Thu Oct 17 14:44:06 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-15287/UKB-b-15287_data.vcf.gz ...
Read summary statistics for 2924071 SNPs.
Dropped 376 SNPs with duplicated rs numbers.
Reading reference panel LD Score from ../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 ../reference/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 730236 SNPs remain.
After merging with regression SNP LD, 730236 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0159 (0.0082)
Lambda GC: 1.0296
Mean Chi^2: 1.0251
Intercept: 1.0013 (0.0091)
Ratio: 0.0529 (0.3645)
Analysis finished at Thu Oct 17 14:44:46 2019
Total time elapsed: 40.3sQC metrics
Metrics
Metrics
{
"af_correlation": 0.8109,
"inflation_factor": 1.0475,
"mean_EFFECT": 5.971e-06,
"n": "-Inf",
"n_snps": 9851866,
"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": 23282,
"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": 730236,
"ldsc_nsnp_merge_regression_ld": 730236,
"ldsc_observed_scale_h2_beta": 0.0159,
"ldsc_observed_scale_h2_se": 0.0082,
"ldsc_intercept_beta": 1.0013,
"ldsc_intercept_se": 0.0091,
"ldsc_lambda_gc": 1.0296,
"ldsc_mean_chisq": 1.0251,
"ldsc_ratio": 0.0518
}
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 betweenAFandAF_reference.inflation_factor(lambda): Genomic inflation factor.mean_EFFECT: Mean ofEFFECTsize.n: Maximum value of reported sample size across all SNPs, \(n\).n_clumped_hits: Number of clumped hits.n_snps: Number of SNPsn_p_sig: Number of SNPs with pvalue below5e-8.n_mono: Number of monomorphic (MAF == 1orMAF == 0) SNPs.n_ns: Number of SNPs with nonsense values:- alleles other than
A, C, G or T. - P-values
< 0or> 1. - negative or infinite standard errors (
<= 0or= Infinity). - infinite beta estimates or allele frequencies
< 0or> 1.
- alleles other than
n_mac: Number of cases whereMAC(\(2 \times N \times MAF\)) is less than6.is_snpid_unique:trueif the combination ofIDREFALTis unique and therefore no duplication in snpid.n_miss_<*>: Number ofNAobservations 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 expectratio_se_nto 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 ofdiffand the mean ofdiff2(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<*>:r2statistics under various assumptions1: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var1}}}\), \(\texttt{var1} = 1\).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: NOTis_snpid_unique.mean_EFFECT_nonfinite:mean(EFFECT)isNA,NaN, orInf.mean_EFFECT_05:abs(mean(EFFECT))> 0.5.mean_EFFECT_01:abs(mean(EFFECT))> 0.1.mean_chisq:ldsc_mean_chisq> 1.3 orldsc_mean_chisq< 0.7.n_p_sig:n_p_sig> 1000.miss_<*>:n_miss_<*>/n_snps> 0.01.ldsc_ratio:ldsc_ratio> 0.5ldsc_intercept_beta:ldsc_intercept_beta> 1.5n_clumped_hits:n_clumped_hits> 1000r2_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 | 58 | 0 | 2923698 | 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 | 2924071 | 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 | 8.658138e+00 | 5.770621e+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 | 7.857797e+07 | 5.667211e+07 | 828.0000000 | 3.168453e+07 | 6.899852e+07 | 1.147878e+08 | 2.492013e+08 | ▇▆▅▂▁ |
| numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 6.000000e-06 | 1.001000e-03 | -0.0049964 | -6.661000e-04 | 5.600000e-06 | 6.772000e-04 | 4.987600e-03 | ▁▂▇▂▁ |
| numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 9.834000e-04 | 7.140000e-05 | 0.0008738 | 9.215000e-04 | 9.620000e-04 | 1.033700e-03 | 2.043700e-03 | ▇▁▁▁▁ |
| numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.951026e-01 | 2.901779e-01 | 0.0000008 | 2.399999e-01 | 4.899999e-01 | 7.499995e-01 | 1.000000e+00 | ▇▇▇▇▇ |
| numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.951011e-01 | 2.901509e-01 | 0.0000008 | 2.420499e-01 | 4.929621e-01 | 7.471468e-01 | 9.999997e-01 | ▇▇▇▇▇ |
| numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.377780e-01 | 1.716852e-01 | 0.1964090 | 2.869900e-01 | 4.083370e-01 | 5.728350e-01 | 8.035910e-01 | ▇▆▅▃▃ |
| numeric | AF_reference | 23282 | 0.9920378 | NA | NA | NA | NA | NA | NA | NA | 4.213946e-01 | 1.891983e-01 | 0.0001997 | 2.695690e-01 | 3.993610e-01 | 5.603040e-01 | 1.000000e+00 | ▂▇▆▃▁ |
Head and tail
| CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 49298 | rs200943160 | T | C | -0.0003239 | 0.0016105 | 0.8400000 | 0.8406090 | 0.623812 | 0.7821490 | NA |
| 1 | 54676 | rs2462492 | C | T | 0.0019527 | 0.0016058 | 0.2200002 | 0.2239656 | 0.399144 | NA | NA |
| 1 | 91536 | rs6702460 | G | T | 0.0005759 | 0.0015794 | 0.7199992 | 0.7153917 | 0.455916 | 0.4207270 | NA |
| 1 | 534192 | rs6680723 | C | T | 0.0013375 | 0.0017988 | 0.4600002 | 0.4571706 | 0.242057 | NA | NA |
| 1 | 706368 | rs55727773 | A | G | 0.0015357 | 0.0011134 | 0.1700000 | 0.1677905 | 0.513304 | 0.2751600 | NA |
| 1 | 763394 | rs369924889 | G | A | 0.0018765 | 0.0013044 | 0.1499999 | 0.1502470 | 0.705804 | 0.6176120 | NA |
| 1 | 768253 | rs2977608 | A | C | -0.0002437 | 0.0010572 | 0.8200001 | 0.8177196 | 0.758252 | 0.4894170 | NA |
| 1 | 776546 | rs12124819 | A | G | -0.0006949 | 0.0011946 | 0.5600000 | 0.5607536 | 0.263729 | 0.0756789 | NA |
| 1 | 798400 | rs10900604 | A | G | -0.0006958 | 0.0011271 | 0.5400003 | 0.5370296 | 0.209824 | 0.4105430 | NA |
| 1 | 798959 | rs11240777 | G | A | -0.0006944 | 0.0011277 | 0.5400003 | 0.5380274 | 0.209642 | 0.4099440 | NA |
| CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22 | 51180501 | rs5770999 | T | C | 0.0004701 | 0.0010433 | 0.6499995 | 0.6522889 | 0.712571 | 0.6369810 | NA |
| 22 | 51181919 | rs9616825 | G | C | 0.0000697 | 0.0010390 | 0.9500000 | 0.9464854 | 0.695031 | 0.6194090 | NA |
| 22 | 51182485 | rs6009961 | A | G | 0.0002753 | 0.0010468 | 0.7899998 | 0.7925441 | 0.714237 | 0.6383790 | NA |
| 22 | 51186143 | rs2879914 | T | C | 0.0007712 | 0.0009748 | 0.4299995 | 0.4288903 | 0.380077 | 0.2733630 | NA |
| 22 | 51186228 | rs3865766 | C | T | 0.0008616 | 0.0009495 | 0.3599996 | 0.3642082 | 0.449547 | 0.4532750 | NA |
| 22 | 51197266 | rs61290853 | A | G | 0.0008588 | 0.0009785 | 0.3800004 | 0.3801381 | 0.386693 | 0.4229230 | NA |
| 22 | 51198027 | rs34939255 | A | G | -0.0008716 | 0.0011098 | 0.4299995 | 0.4321961 | 0.254586 | 0.0984425 | NA |
| 22 | 51211106 | rs9628250 | T | C | -0.0002598 | 0.0011008 | 0.8100000 | 0.8134676 | 0.271468 | 0.1671330 | NA |
| 22 | 51212875 | rs2238837 | A | C | 0.0004349 | 0.0010464 | 0.6800001 | 0.6777338 | 0.331351 | 0.3724040 | NA |
| 22 | 51237063 | rs3896457 | T | C | 0.0006725 | 0.0010691 | 0.5300002 | 0.5292821 | 0.298393 | 0.2050720 | NA |
bcf preview
1 49298 rs10399793 T C . PASS AF=0.623812 ES:SE:LP:AF:ID -0.000323887:0.00161046:0.0757207:0.623812:rs10399793
1 54676 rs2462492 C T . PASS AF=0.399144 ES:SE:LP:AF:ID 0.00195271:0.00160578:0.657577:0.399144:rs2462492
1 91536 rs6702460 G T . PASS AF=0.455916 ES:SE:LP:AF:ID 0.000575888:0.0015794:0.142668:0.455916:rs6702460
1 534192 rs6680723 C T . PASS AF=0.242057 ES:SE:LP:AF:ID 0.00133747:0.00179885:0.337242:0.242057:rs6680723
1 706368 rs12029736 A G . PASS AF=0.513304 ES:SE:LP:AF:ID 0.0015357:0.00111336:0.769551:0.513304:rs12029736
1 763394 rs3115847 G A . PASS AF=0.705804 ES:SE:LP:AF:ID 0.00187653:0.00130436:0.823909:0.705804:rs3115847
1 768253 rs2977608 A C . PASS AF=0.758252 ES:SE:LP:AF:ID -0.00024366:0.00105719:0.0861861:0.758252:rs2977608
1 776546 rs12124819 A G . PASS AF=0.263729 ES:SE:LP:AF:ID -0.000694914:0.00119458:0.251812:0.263729:rs12124819
1 798400 rs10900604 A G . PASS AF=0.209824 ES:SE:LP:AF:ID -0.000695765:0.00112709:0.267606:0.209824:rs10900604
1 798959 rs11240777 G A . PASS AF=0.209642 ES:SE:LP:AF:ID -0.00069443:0.00112769:0.267606:0.209642:rs11240777
1 808631 rs11240779 G A . PASS AF=0.76828 ES:SE:LP:AF:ID -0.000134071:0.00107177:0.0457575:0.76828:rs11240779
1 808928 rs11240780 C T . PASS AF=0.768417 ES:SE:LP:AF:ID -0.000117483:0.00107314:0.0409586:0.768417:rs11240780
1 814495 rs74461805 C A . PASS AF=0.340108 ES:SE:LP:AF:ID -0.00281299:0.00152463:1.18709:0.340108:rs74461805
1 830181 rs28444699 A G . PASS AF=0.696612 ES:SE:LP:AF:ID 0.000692686:0.00102001:0.30103:0.696612:rs28444699
1 831489 rs4970385 C T . PASS AF=0.705031 ES:SE:LP:AF:ID 1.8471e-05:0.00100154:0.00436481:0.705031:rs4970385
1 831909 rs9697642 C T . PASS AF=0.705083 ES:SE:LP:AF:ID 1.66614e-07:0.00100153:-0:0.705083:rs9697642
1 832066 rs9697380 G C . PASS AF=0.705261 ES:SE:LP:AF:ID -1.13414e-05:0.00100149:0.00436481:0.705261:rs9697380
1 832318 rs4500250 C A . PASS AF=0.705286 ES:SE:LP:AF:ID 3.83893e-06:0.00100163:-0:0.705286:rs4500250
1 832398 rs4553118 T C . PASS AF=0.730154 ES:SE:LP:AF:ID 0.000804048:0.00102926:0.366532:0.730154:rs4553118
1 832918 rs28765502 T C . PASS AF=0.294729 ES:SE:LP:AF:ID -4.85197e-06:0.0010016:-0:0.294729:rs28765502
1 833223 rs13303211 C T . PASS AF=0.237157 ES:SE:LP:AF:ID 0.000859204:0.00106632:0.376751:0.237157:rs13303211
1 833302 rs28752186 C T . PASS AF=0.237168 ES:SE:LP:AF:ID 0.000856838:0.00106633:0.376751:0.237168:rs28752186
1 833641 rs28594623 T C . PASS AF=0.240204 ES:SE:LP:AF:ID 0.000762761:0.00106317:0.327902:0.240204:rs28594623
1 833824 rs28484835 T C . PASS AF=0.23716 ES:SE:LP:AF:ID 0.000901607:0.00106638:0.39794:0.23716:rs28484835
1 833927 rs28593608 T C . PASS AF=0.212467 ES:SE:LP:AF:ID 4.05207e-06:0.0011085:-0:0.212467:rs28593608
1 834198 rs28385272 T C . PASS AF=0.21236 ES:SE:LP:AF:ID 2.14893e-05:0.00110877:0.00877392:0.21236:rs28385272
1 834832 rs4411087 G C . PASS AF=0.237633 ES:SE:LP:AF:ID 0.000802709:0.00106558:0.346787:0.237633:rs4411087
1 834928 rs4422949 A G . PASS AF=0.213048 ES:SE:LP:AF:ID -7.76274e-05:0.00110684:0.0268721:0.213048:rs4422949
1 834999 rs28570054 G A . PASS AF=0.213007 ES:SE:LP:AF:ID -1.41553e-05:0.00110705:0.00436481:0.213007:rs28570054
1 835499 rs4422948 A G . PASS AF=0.241744 ES:SE:LP:AF:ID 0.000985988:0.00105761:0.455932:0.241744:rs4422948
1 836529 rs28731045 C G . PASS AF=0.213504 ES:SE:LP:AF:ID -7.5842e-05:0.00110572:0.0222764:0.213504:rs28731045
1 836896 rs28705752 T C . PASS AF=0.269687 ES:SE:LP:AF:ID 0.00124245:0.00102194:0.657577:0.269687:rs28705752
1 836924 rs72890788 G A . PASS AF=0.213501 ES:SE:LP:AF:ID -0.000103162:0.00110587:0.0315171:0.213501:rs72890788
1 838387 rs4970384 T C . PASS AF=0.214599 ES:SE:LP:AF:ID -2.83057e-05:0.00110373:0.00877392:0.214599:rs4970384
1 838555 rs4970383 C A . PASS AF=0.245985 ES:SE:LP:AF:ID 0.000467:0.00105209:0.180456:0.245985:rs4970383
1 839103 rs28562941 A G . PASS AF=0.270067 ES:SE:LP:AF:ID 0.00135072:0.00102277:0.721246:0.270067:rs28562941
1 840753 rs4970382 T C . PASS AF=0.400406 ES:SE:LP:AF:ID -0.000184436:0.000924573:0.0757207:0.400406:rs4970382
1 841085 rs1574243 C G . PASS AF=0.236925 ES:SE:LP:AF:ID 0.000381:0.00107485:0.142668:0.236925:rs1574243
1 842013 rs7419119 T G . PASS AF=0.215763 ES:SE:LP:AF:ID 2.61713e-05:0.00110455:0.00877392:0.215763:rs7419119
1 842362 rs28540380 C T . PASS AF=0.234687 ES:SE:LP:AF:ID 0.000325245:0.00109169:0.113509:0.234687:rs28540380
1 843405 rs11516185 A G . PASS AF=0.362367 ES:SE:LP:AF:ID -0.00253057:0.00115033:1.55284:0.362367:rs11516185
1 845635 rs117086422 C T . PASS AF=0.206525 ES:SE:LP:AF:ID 0.000652265:0.00112005:0.251812:0.206525:rs117086422
1 845938 rs57760052 G A . PASS AF=0.212239 ES:SE:LP:AF:ID 0.000843823:0.00110935:0.346787:0.212239:rs57760052
1 846078 rs28612348 C T . PASS AF=0.197605 ES:SE:LP:AF:ID 0.000345731:0.00113691:0.119186:0.197605:rs28612348
1 846398 rs58781670 G A . PASS AF=0.205375 ES:SE:LP:AF:ID 0.000880947:0.00112545:0.366532:0.205375:rs58781670
1 846808 rs4475691 C T . PASS AF=0.199243 ES:SE:LP:AF:ID 0.00021783:0.00113358:0.0705811:0.199243:rs4475691
1 846864 rs950122 G C . PASS AF=0.198879 ES:SE:LP:AF:ID 8.24131e-05:0.00113305:0.0268721:0.198879:rs950122
1 847228 rs3905286 C T . PASS AF=0.204761 ES:SE:LP:AF:ID 0.000162602:0.0011239:0.0555173:0.204761:rs3905286
1 847491 rs28407778 G A . PASS AF=0.21552 ES:SE:LP:AF:ID 0.000393946:0.00110036:0.142668:0.21552:rs28407778
1 848090 rs4246505 G A . PASS AF=0.213746 ES:SE:LP:AF:ID 0.000518941:0.00110374:0.19382:0.213746:rs4246505