{
"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-31,TotalVariants=26946895,VariantsNotRead=0,HarmonisedVariants=26946895,VariantsNotHarmonised=0,SwitchedAlleles=18463548,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/2da58da4-3465-4f3f-8e26-37fd0cbe633f/call-vcf/inputs/562856188/upload.txt.gz --id ieu-b-31 --json /data/cromwell-executions/qc/2da58da4-3465-4f3f-8e26-37fd0cbe633f/call-vcf/inputs/562856188/ieu-b-31_data.json --ref /data/cromwell-executions/qc/2da58da4-3465-4f3f-8e26-37fd0cbe633f/call-vcf/inputs/1899004205/human_g1k_v37.fasta --dbsnp /data/cromwell-executions/qc/2da58da4-3465-4f3f-8e26-37fd0cbe633f/call-vcf/inputs/-307190728/dbsnp.v153.b37.vcf.gz --out /data/igd/ieu-b-31/ieu-b-31.vcf.gz --rm_chr_prefix; 1.2.1",
"file_date": "2020-08-20T22:23:40.147662",
"bcftools_viewVersion": "1.9+htslib-1.9",
"bcftools_viewCommand": "view -h /data/igd/ieu-b-31/ieu-b-31.vcf.gz; Date=Wed Feb 24 21:09:50 2021"
}
*********************************************************************
* 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/2da58da4-3465-4f3f-8e26-37fd0cbe633f/call-ldsc/inputs/562856188/ieu-b-31.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-31/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/
Beginning analysis at Fri Aug 21 01:27:59 2020
Reading summary statistics from /data/cromwell-executions/qc/2da58da4-3465-4f3f-8e26-37fd0cbe633f/call-ldsc/inputs/562856188/ieu-b-31.vcf.gz ...
Read summary statistics for 26946663 SNPs.
Dropped 127474 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, 1220779 SNPs remain.
After merging with regression SNP LD, 1220779 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.2294 (0.0251)
Lambda GC: 1.7479
Mean Chi^2: 3.5529
Intercept: 1.3499 (0.031)
Ratio: 0.137 (0.0121)
Analysis finished at Fri Aug 21 01:33:42 2020
Total time elapsed: 5.0m:43.36s
{
"af_correlation": 0.9666,
"inflation_factor": 1.1894,
"mean_EFFECT": -0.0015,
"n": 521594,
"n_snps": 26946895,
"n_clumped_hits": 510,
"n_p_sig": 110952,
"n_mono": 0,
"n_ns": 0,
"n_mac": 50372,
"is_snpid_unique": false,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 0,
"n_miss_AF_reference": 2124828,
"n_est": 382636.9335,
"ratio_se_n": 0.8565,
"mean_diff": 0.0008,
"ratio_diff": 1.2565,
"sd_y_est1": 1.3057,
"sd_y_est2": 1.1184,
"r2_sum1": 0.1511,
"r2_sum2": 0.0886,
"r2_sum3": 0.1208,
"r2_sum4": 0.1595,
"ldsc_nsnp_merge_refpanel_ld": 1220779,
"ldsc_nsnp_merge_regression_ld": 1220779,
"ldsc_observed_scale_h2_beta": 0.2294,
"ldsc_observed_scale_h2_se": 0.0251,
"ldsc_intercept_beta": 1.3499,
"ldsc_intercept_se": 0.031,
"ldsc_lambda_gc": 1.7479,
"ldsc_mean_chisq": 3.5529,
"ldsc_ratio": 0.1371
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | FALSE |
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 | FALSE |
r2_sum2 | FALSE |
r2_sum3 | FALSE |
r2_sum4 | FALSE |
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 SNPsn_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:
A, C, G or T
.< 0
or > 1
.<= 0
or = Infinity
).< 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.
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.
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.
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.
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
> 0.5ldsc_intercept_beta
: ldsc_intercept_beta
> 1.5n_clumped_hits
: n_clumped_hits
> 1000r2_sum<*>
: r2_sum<*>
> 0.5Plots
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 | 47 | 0.9999983 | 3 | 64 | 0 | 26945091 | 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 | 8.653443e+00 | 5.782457e+00 | 1.000000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.200000e+01 | ▇▅▃▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.898078e+07 | 5.624809e+07 | 56.000000 | 3.283316e+07 | 6.963389e+07 | 1.148532e+08 | 2.492398e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | -1.503200e-03 | 1.712029e-01 | -93.661600 | -2.284200e-02 | -9.300000e-05 | 2.126400e-02 | 4.105960e+01 | ▁▁▁▇▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.386600e-02 | 1.460227e-01 | 0.000462 | 6.815000e-03 | 4.620900e-02 | 1.174750e-01 | 7.430190e+01 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.700682e-01 | 2.991976e-01 | 0.000000 | 2.036601e-01 | 4.619745e-01 | 7.297330e-01 | 1.000000e+00 | ▇▆▆▆▆ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.700679e-01 | 2.991988e-01 | 0.000000 | 2.036802e-01 | 4.619640e-01 | 7.297219e-01 | 1.000000e+00 | ▇▆▆▆▆ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.885060e-02 | 1.926031e-01 | 0.000025 | 1.660000e-04 | 7.900000e-04 | 2.301000e-02 | 9.999750e-01 | ▇▁▁▁▁ |
numeric | AF_reference | 2124828 | 0.9211476 | NA | NA | NA | NA | NA | 8.966970e-02 | 1.921881e-01 | 0.000000 | 1.397800e-03 | 7.388200e-03 | 5.291530e-02 | 1.000000e+00 | ▇▁▁▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.391926e+05 | 1.250756e+05 | 396.000000 | 4.392470e+05 | 4.634550e+05 | 5.201190e+05 | 5.215940e+05 | ▁▁▁▂▇ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 16141 | rs529651976 | C | T | 0.427499 | 0.216687 | 0.0485255 | 0.0485084 | 0.000511 | 0.0025958 | 35253 |
1 | 49298 | rs200943160 | T | C | 0.003358 | 0.011295 | 0.7662421 | 0.7662377 | 0.823742 | 0.7821490 | 35253 |
1 | 54353 | rs140052487 | C | A | 0.084058 | 0.101643 | 0.4082432 | 0.4082413 | 0.001815 | 0.0089856 | 35253 |
1 | 54564 | rs558796213 | G | T | 0.089614 | 0.112446 | 0.4254818 | 0.4254792 | 0.000141 | 0.0041933 | 403994 |
1 | 54591 | rs561234294 | A | G | 0.021401 | 0.120776 | 0.8593399 | 0.8593546 | 0.001552 | 0.0035942 | 35253 |
1 | 54712 | rs552304420 | T | C | 0.045321 | 0.044239 | 0.3055991 | 0.3056190 | 0.010379 | 0.0109824 | 35253 |
1 | 54815 | rs568686875 | T | C | 0.201867 | 0.187680 | 0.2820928 | 0.2821100 | 0.000481 | 0.0019968 | 35253 |
1 | 55326 | rs3107975 | T | C | -0.010242 | 0.033275 | 0.7582405 | 0.7582356 | 0.019596 | 0.0459265 | 35253 |
1 | 55351 | rs531766459 | T | A | -0.004365 | 0.059198 | 0.9412010 | 0.9412208 | 0.000503 | 0.0007987 | 403994 |
1 | 55405 | rs372455836 | C | T | 0.049055 | 0.056330 | 0.3838301 | 0.3838359 | 0.006824 | 0.0075879 | 35253 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 51237137 | rs534739169 | A | C | -0.028764 | 0.087717 | 0.7429815 | 0.7429735 | 0.000213 | 0.0001997 | 439247 |
22 | 51237410 | rs530437591 | G | A | -0.026768 | 0.057426 | 0.6411417 | 0.6411222 | 0.000353 | 0.0017971 | 439247 |
22 | 51237486 | rs149820726 | G | C | 0.134882 | 0.159779 | 0.3985704 | 0.3985697 | 0.000539 | 0.0025958 | 35253 |
22 | 51238275 | rs202031343 | C | T | 0.206938 | 0.103855 | 0.0463255 | 0.0463089 | 0.001276 | 0.0009984 | 35253 |
22 | 51238307 | rs577028785 | A | G | 0.060542 | 0.238760 | 0.7998250 | 0.7998290 | 0.000241 | 0.0015974 | 35253 |
22 | 51238349 | rs546389903 | T | C | -0.244042 | 0.284104 | 0.3903462 | 0.3903470 | 0.000170 | 0.0013978 | 35253 |
22 | 51238660 | rs569936315 | A | G | -0.095505 | 0.151423 | 0.5282457 | 0.5282258 | 0.000066 | 0.0167732 | 439247 |
22 | 51239586 | rs535432390 | T | G | -0.034566 | 0.021053 | 0.1006060 | 0.1006198 | 0.002957 | 0.0001997 | 462485 |
22 | 51239678 | rs573137567 | G | T | 0.040117 | 0.086834 | 0.6441085 | 0.6440839 | 0.001830 | 0.0233626 | 35253 |
22 | 51244163 | rs199560686 | A | G | 0.272460 | 0.204812 | 0.1834028 | 0.1834217 | 0.000053 | 0.0077875 | 439247 |
1 16141 rs529651976 C T . PASS AF=0.000511 ES:SE:LP:AF:SS:ID 0.427499:0.216687:1.31403:0.000511:35253:rs529651976
1 49298 rs10399793 T C . PASS AF=0.823742 ES:SE:LP:AF:SS:ID 0.003358:0.011295:0.115634:0.823742:35253:rs10399793
1 54353 rs140052487 C A . PASS AF=0.001815 ES:SE:LP:AF:SS:ID 0.084058:0.101643:0.389081:0.001815:35253:rs140052487
1 54564 rs558796213 G T . PASS AF=0.000141 ES:SE:LP:AF:SS:ID 0.089614:0.112446:0.371119:0.000141:403994:rs558796213
1 54591 rs561234294 A G . PASS AF=0.001552 ES:SE:LP:AF:SS:ID 0.021401:0.120776:0.065835:0.001552:35253:rs561234294
1 54712 rs573184866 T C . PASS AF=0.010379 ES:SE:LP:AF:SS:ID 0.045321:0.044239:0.514848:0.010379:35253:rs573184866
1 54815 rs568686875 T C . PASS AF=0.000481 ES:SE:LP:AF:SS:ID 0.201867:0.18768:0.549608:0.000481:35253:rs568686875
1 55326 rs3107975 T C . PASS AF=0.019596 ES:SE:LP:AF:SS:ID -0.010242:0.033275:0.120193:0.019596:35253:rs3107975
1 55351 rs531766459 T A . PASS AF=0.000503 ES:SE:LP:AF:SS:ID -0.004365:0.059198:0.0263176:0.000503:403994:rs531766459
1 55405 rs372455836 C T . PASS AF=0.006824 ES:SE:LP:AF:SS:ID 0.049055:0.05633:0.415861:0.006824:35253:rs372455836
1 55416 rs193242050 G A . PASS AF=9.2e-05 ES:SE:LP:AF:SS:ID -0.076905:0.166616:0.190838:9.2e-05:439247:rs193242050
1 55427 rs183189405 T C . PASS AF=0.002334 ES:SE:LP:AF:SS:ID -0.089086:0.111079:0.37412:0.002334:35253:rs183189405
1 56586 rs541979596 G A . PASS AF=0.001466 ES:SE:LP:AF:SS:ID -0.205821:0.133361:0.91101:0.001466:35253:rs541979596
1 57095 rs553759011 T C . PASS AF=3.6e-05 ES:SE:LP:AF:SS:ID -0.001648:0.222691:0.00257298:3.6e-05:403994:rs553759011
1 57183 rs368339209 A G . PASS AF=2.8e-05 ES:SE:LP:AF:SS:ID -0.471362:0.36358:0.710407:2.8e-05:403994:rs368339209
1 61804 rs567421057 G A . PASS AF=7.4e-05 ES:SE:LP:AF:SS:ID -0.178631:0.161091:0.572738:7.4e-05:403994:rs567421057
1 61993 rs190553843 C T . PASS AF=9.5e-05 ES:SE:LP:AF:SS:ID 0.29185:0.159043:1.17711:9.5e-05:439247:rs190553843
1 62124 rs528478839 G A . PASS AF=0.000182 ES:SE:LP:AF:SS:ID 0.398012:0.39345:0.506238:0.000182:35253:rs528478839
1 62157 rs10399597 G A . PASS AF=0.000132 ES:SE:LP:AF:SS:ID 0.086947:0.09908:0.420002:0.000132:439247:rs10399597
1 62509 rs534313866 T C . PASS AF=0.000533 ES:SE:LP:AF:SS:ID 0.40906:0.218939:1.20956:0.000533:35253:rs534313866
1 62617 rs543126209 T G . PASS AF=8.9e-05 ES:SE:LP:AF:SS:ID -0.045688:0.165743:0.106343:8.9e-05:439247:rs543126209
1 64670 rs545257650 A G . PASS AF=0.000146 ES:SE:LP:AF:SS:ID -0.171667:0.117699:0.839583:0.000146:439247:rs545257650
1 64908 rs540391097 A G . PASS AF=0.000642 ES:SE:LP:AF:SS:ID 0.004577:0.05309:0.0309188:0.000642:439247:rs540391097
1 65009 rs563233355 G A . PASS AF=0.000288 ES:SE:LP:AF:SS:ID -0.108171:0.073433:0.851635:0.000288:439247:rs563233355
1 65974 rs531923826 A G . PASS AF=0.004647 ES:SE:LP:AF:SS:ID 0.022648:0.068952:0.129262:0.004647:35253:rs531923826
1 67179 rs149952626 C G . PASS AF=0.000128 ES:SE:LP:AF:SS:ID -0.348814:0.367752:0.464878:0.000128:35253:rs149952626
1 67223 rs78676975 C T . PASS AF=0.000469 ES:SE:LP:AF:SS:ID 0.121674:0.261517:0.192624:0.000469:35253:rs78676975
1 67224 rs566526215 G A . PASS AF=0.000161 ES:SE:LP:AF:SS:ID -0.152394:0.123545:0.662808:0.000161:439247:rs566526215
1 67631 rs533896527 G C . PASS AF=0.000198 ES:SE:LP:AF:SS:ID -0.097552:0.095728:0.511224:0.000198:439247:rs533896527
1 69594 rs144967600 T C . PASS AF=0.000745 ES:SE:LP:AF:SS:ID -0.071976:0.188989:0.152839:0.000745:35253:rs144967600
1 69610 rs376022826 C T . PASS AF=0.000222 ES:SE:LP:AF:SS:ID 0.058824:0.378144:0.0573165:0.000222:35253:rs376022826
1 70317 rs570011908 G A . PASS AF=0.000636 ES:SE:LP:AF:SS:ID -0.009942:0.207632:0.0169179:0.000636:35253:rs570011908
1 72526 rs547237130 A G . PASS AF=0.038342 ES:SE:LP:AF:SS:ID 0.009192:0.023307:0.159069:0.038342:35253:rs547237130
1 73093 rs535508237 G A . PASS AF=0.003935 ES:SE:LP:AF:SS:ID -0.119718:0.070362:1.05131:0.003935:35253:rs535508237
1 77763 rs557457745 G A . PASS AF=0.005364 ES:SE:LP:AF:SS:ID 0.051872:0.062805:0.388439:0.005364:35253:rs557457745
1 78942 rs372315362 C G . PASS AF=0.007964 ES:SE:LP:AF:SS:ID -0.031058:0.049397:0.276101:0.007964:35253:rs372315362
1 79033 rs2462495 A G . PASS AF=0.998702 ES:SE:LP:AF:SS:ID 0.030693:0.046669:0.291776:0.998702:403994:rs2462495
1 79137 rs143777184 A T . PASS AF=0.001016 ES:SE:LP:AF:SS:ID 0.022565:0.042995:0.222043:0.001016:439247:rs143777184
1 79188 rs534350410 G T . PASS AF=0.001117 ES:SE:LP:AF:SS:ID -0.018478:0.149173:0.0450844:0.001117:35253:rs534350410
1 82957 rs189774606 C T . PASS AF=0.000458 ES:SE:LP:AF:SS:ID -0.003124:0.057022:0.0194113:0.000458:439247:rs189774606
1 82961 rs537801787 C T . PASS AF=0.000505 ES:SE:LP:AF:SS:ID -0.245113:0.216868:0.587783:0.000505:35253:rs537801787
1 82994 rs574556077 A G . PASS AF=0.000162 ES:SE:LP:AF:SS:ID 0.282006:0.354494:0.370266:0.000162:35253:rs574556077
1 83170 rs562997564 G T . PASS AF=0.001254 ES:SE:LP:AF:SS:ID 0.21624:0.138611:0.925399:0.001254:35253:rs562997564
1 83771 rs189906733 T G . PASS AF=0.000653 ES:SE:LP:AF:SS:ID 0.008935:0.049471:0.0671951:0.000653:439247:rs189906733
1 84139 rs183605470 A T . PASS AF=0.020789 ES:SE:LP:AF:SS:ID 0.026065:0.03179:0.38482:0.020789:35253:rs183605470
1 84618 rs576633512 C T . PASS AF=0.000714 ES:SE:LP:AF:SS:ID 0.005594:0.187179:0.0104848:0.000714:35253:rs576633512
1 85622 rs185273034 A T . PASS AF=0.001252 ES:SE:LP:AF:SS:ID 0.158655:0.138316:0.599735:0.001252:35253:rs185273034
1 85892 rs147185795 A G . PASS AF=0.000451 ES:SE:LP:AF:SS:ID 0.028684:0.064577:0.182476:0.000451:439247:rs147185795
1 86028 rs114608975 T C . PASS AF=0.061284 ES:SE:LP:AF:SS:ID -0.006518:0.018266:0.141932:0.061284:35253:rs114608975
1 86192 rs548281277 G A . PASS AF=0.034608 ES:SE:LP:AF:SS:ID 0.00243:0.024492:0.0357588:0.034608:35253:rs548281277