{
"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-4971,TotalVariants=12243513,VariantsNotRead=0,HarmonisedVariants=12243513,VariantsNotHarmonised=0,SwitchedAlleles=102,NormalisedVariants=737,TotalControls=482432,TotalCases=4052,StudyType=CaseControl>",
"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/316b80ac-8838-4ce1-b882-54a8fb115bd1/call-vcf/inputs/-261043395/upload.txt.gz --id ieu-b-4971 --json /data/cromwell-executions/qc/316b80ac-8838-4ce1-b882-54a8fb115bd1/call-vcf/inputs/-261043395/ieu-b-4971_data.json --ref /data/cromwell-executions/qc/316b80ac-8838-4ce1-b882-54a8fb115bd1/call-vcf/inputs/1899004205/human_g1k_v37.fasta --dbsnp /data/cromwell-executions/qc/316b80ac-8838-4ce1-b882-54a8fb115bd1/call-vcf/inputs/-307190728/dbsnp.v153.b37.vcf.gz --out /data/igd/ieu-b-4971/ieu-b-4971.vcf.gz --alias alias.txt --cohort_cases 4052 --cohort_controls 482432; 1.3.0",
"file_date": "2022-04-23T01:15:01.640757",
"bcftools_viewVersion": "1.9+htslib-1.9",
"bcftools_viewCommand": "view -h /data/cromwell-executions/qc/316b80ac-8838-4ce1-b882-54a8fb115bd1/call-report/inputs/-261043395/ieu-b-4971.vcf.gz; Date=Sat Apr 23 01:43:55 2022"
}
*********************************************************************
* 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/316b80ac-8838-4ce1-b882-54a8fb115bd1/call-ldsc/inputs/-261043395/ieu-b-4971.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-4971/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/
Beginning analysis at Sat Apr 23 01:32:38 2022
Reading summary statistics from /data/cromwell-executions/qc/316b80ac-8838-4ce1-b882-54a8fb115bd1/call-ldsc/inputs/-261043395/ieu-b-4971.vcf.gz ...
Read summary statistics for 12242513 SNPs.
Dropped 231395 SNPs with duplicated rs numbers.
Reading reference panel LD Score from /data/ref/eur_w_ld_chr/[1-22] ... (ldscore_fromlist)
Read reference panel LD Scores for 1290028 SNPs.
Removing partitioned LD Scores with zero variance.
Reading regression weight LD Score from /data/ref/eur_w_ld_chr/[1-22] ... (ldscore_fromlist)
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1220578 SNPs remain.
After merging with regression SNP LD, 1220578 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0025 (0.001)
Lambda GC: 1.0286
Mean Chi^2: 1.0336
Intercept: 1.01 (0.0064)
Ratio: 0.2975 (0.1894)
Analysis finished at Sat Apr 23 01:34:33 2022
Total time elapsed: 1.0m:55.13s
{
"af_correlation": 0.95,
"inflation_factor": 1.0158,
"mean_EFFECT": -0.0004,
"n": "-Inf",
"n_snps": 12243513,
"n_clumped_hits": 1,
"n_p_sig": 40,
"n_mono": 0,
"n_ns": 1279894,
"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": 404169,
"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": 1220578,
"ldsc_nsnp_merge_regression_ld": 1220578,
"ldsc_observed_scale_h2_beta": 0.0025,
"ldsc_observed_scale_h2_se": 0.001,
"ldsc_intercept_beta": 1.01,
"ldsc_intercept_se": 0.0064,
"ldsc_lambda_gc": 1.0286,
"ldsc_mean_chisq": 1.0336,
"ldsc_ratio": 0.2976
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | FALSE |
n | TRUE |
is_snpid_non_unique | TRUE |
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 |
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 | logical.mean | logical.count | numeric.mean | numeric.sd | numeric.p0 | numeric.p25 | numeric.p50 | numeric.p75 | numeric.p100 | numeric.hist |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
character | ID | 566 | 0.9999538 | 3 | 58 | 0 | 12193986 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 101 | 0 | 56052 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 662 | 0 | 34526 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
logical | N | 12243513 | 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 | 8.635976e+00 | 5.758639e+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 | 7.869386e+07 | 5.629932e+07 | 302.0000000 | 3.250307e+07 | 6.911907e+07 | 1.143451e+08 | 2.492405e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | -4.225000e-04 | 1.428641e-01 | -36.0162000 | -3.224840e-02 | -4.438000e-04 | 3.122040e-02 | 8.296850e+01 | ▁▇▁▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 7.977730e-02 | 1.396444e-01 | 0.0220957 | 2.680210e-02 | 4.333090e-02 | 1.000210e-01 | 3.720900e+01 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.972871e-01 | 2.898095e-01 | 0.0000000 | 2.448928e-01 | 4.966381e-01 | 7.484400e-01 | 9.999999e-01 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.972871e-01 | 2.898095e-01 | 0.0000000 | 2.448931e-01 | 4.966382e-01 | 7.484406e-01 | 9.999999e-01 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 2.127953e-01 | 2.602011e-01 | 0.0000054 | 1.457930e-02 | 8.849610e-02 | 3.382510e-01 | 9.999950e-01 | ▇▂▁▁▁ |
numeric | AF_reference | 404169 | 0.9669891 | NA | NA | NA | NA | NA | NA | NA | 2.160786e-01 | 2.512172e-01 | 0.0000000 | 1.357830e-02 | 1.106230e-01 | 3.426520e-01 | 1.000000e+00 | ▇▂▁▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 10177 | rs367896724 | A | AC | -0.0317061 | 0.0340947 | 0.3524025 | 0.3524010 | 0.3989060 | 0.4253190 | NA |
1 | 10352 | rs555500075 | T | TA | 0.0581646 | 0.0351090 | 0.0975821 | 0.0975829 | 0.3932360 | 0.4375000 | NA |
1 | 11008 | rs575272151 | C | G | 0.0284356 | 0.0582753 | 0.6255831 | 0.6255832 | 0.0862242 | 0.0880591 | NA |
1 | 11012 | rs544419019 | C | G | 0.0284356 | 0.0582753 | 0.6255831 | 0.6255832 | 0.0862242 | 0.0880591 | NA |
1 | 13110 | rs540538026 | G | A | -0.0384514 | 0.0775660 | 0.6200890 | 0.6200885 | 0.0586843 | 0.0267572 | NA |
1 | 13116 | rs62635286 | T | G | -0.0409817 | 0.0460031 | 0.3730113 | 0.3730115 | 0.1891810 | 0.0970447 | NA |
1 | 13118 | rs200579949 | A | G | -0.0409817 | 0.0460031 | 0.3730113 | 0.3730115 | 0.1891810 | 0.0970447 | NA |
1 | 13273 | rs531730856 | G | C | 0.0531662 | 0.0536643 | 0.3218229 | 0.3218232 | 0.1341340 | 0.0950479 | NA |
1 | 14464 | rs546169444 | A | T | -0.0187059 | 0.0490170 | 0.7027421 | 0.7027428 | 0.1568980 | 0.0958466 | NA |
1 | 14599 | rs531646671 | T | A | -0.0516189 | 0.0445875 | 0.2469864 | 0.2469869 | 0.1915570 | 0.1475640 | NA |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 51233182 | rs4040317 | G | A | -0.0003463 | 0.0279231 | 0.9901042 | 0.9901042 | 0.3200860 | 0.2633790 | NA |
22 | 51233300 | rs9616839 | C | T | 0.0236856 | 0.0278615 | 0.3952592 | 0.3952587 | 0.3343140 | 0.3146960 | NA |
22 | 51233312 | rs62240043 | A | G | 0.0057786 | 0.0293513 | 0.8439247 | 0.8439247 | 0.2729950 | 0.2134580 | NA |
22 | 51233347 | rs62240044 | T | C | 0.0057786 | 0.0293513 | 0.8439247 | 0.8439247 | 0.2729950 | 0.2134580 | NA |
22 | 51234799 | rs191117135 | G | A | -0.0661697 | 0.1040640 | 0.5248715 | 0.5248704 | 0.0156550 | 0.0059904 | NA |
22 | 51235959 | rs200189535 | T | C | 0.0248774 | 0.0341892 | 0.4668356 | 0.4668345 | 0.1953500 | 0.1996810 | NA |
22 | 51235979 | rs62240045 | G | A | 0.0089963 | 0.0380077 | 0.8128927 | 0.8128929 | 0.2637980 | 0.2400160 | NA |
22 | 51236013 | rs200507571 | A | AT | -0.0241046 | 0.0294169 | 0.4125513 | 0.4125506 | 0.2513400 | 0.1487620 | NA |
22 | 51237063 | rs3896457 | T | C | 0.0145208 | 0.0270588 | 0.5915180 | 0.5915172 | 0.2979820 | 0.2050720 | NA |
22 | 51237712 | rs370652263 | G | A | -0.0264385 | 0.0539710 | 0.6242305 | 0.6242295 | 0.0553522 | 0.0690895 | NA |
1 10177 rs1264289758 A AC . PASS AF=0.398906 ES:SE:LP:AF:ID -0.0317061:0.0340947:0.452961:0.398906:rs1264289758
1 10352 rs1557426776 T TA . PASS AF=0.393236 ES:SE:LP:AF:ID 0.0581646:0.035109:1.01063:0.393236:rs1557426776
1 11008 rs575272151 C G . PASS AF=0.0862242 ES:SE:LP:AF:ID 0.0284356:0.0582753:0.203715:0.0862242:rs575272151
1 11012 rs544419019 C G . PASS AF=0.0862242 ES:SE:LP:AF:ID 0.0284356:0.0582753:0.203715:0.0862242:rs544419019
1 13110 rs540538026 G A . PASS AF=0.0586843 ES:SE:LP:AF:ID -0.0384514:0.077566:0.207546:0.0586843:rs540538026
1 13116 rs62635286 T G . PASS AF=0.189181 ES:SE:LP:AF:ID -0.0409817:0.0460031:0.428278:0.189181:rs62635286
1 13118 rs62028691 A G . PASS AF=0.189181 ES:SE:LP:AF:ID -0.0409817:0.0460031:0.428278:0.189181:rs62028691
1 13273 rs531730856 G C . PASS AF=0.134134 ES:SE:LP:AF:ID 0.0531662:0.0536643:0.492383:0.134134:rs531730856
1 14464 rs546169444 A T . PASS AF=0.156898 ES:SE:LP:AF:ID -0.0187059:0.049017:0.153204:0.156898:rs546169444
1 14599 rs707680 T A . PASS AF=0.191557 ES:SE:LP:AF:ID -0.0516189:0.0445875:0.607327:0.191557:rs707680
1 14604 rs1418508701 A G . PASS AF=0.191557 ES:SE:LP:AF:ID -0.0516189:0.0445875:0.607327:0.191557:rs1418508701
1 14930 rs6682385 A G . PASS AF=0.473819 ES:SE:LP:AF:ID 0.024043:0.0346198:0.312135:0.473819:rs6682385
1 14933 rs199856693 G A . PASS AF=0.0450802 ES:SE:LP:AF:ID 0.104082:0.085074:0.655275:0.0450802:rs199856693
1 15211 rs3982632 T G . PASS AF=0.741355 ES:SE:LP:AF:ID 0.0305024:0.0400168:0.350746:0.741355:rs3982632
1 15820 rs1316988498 G T . PASS AF=0.275124 ES:SE:LP:AF:ID 0.0290681:0.0410047:0.32022:0.275124:rs1316988498
1 15903 rs557514207 G GC . PASS AF=0.41884 ES:SE:LP:AF:ID 1.9754e-05:0.0338545:0.000202239:0.41884:rs557514207
1 28590 rs1344649620 T TTGG . PASS AF=0.956571 ES:SE:LP:AF:ID 0.152221:0.0963401:0.942719:0.956571:rs1344649620
1 30923 rs1165072081 G T . PASS AF=0.910221 ES:SE:LP:AF:ID 0.0198324:0.0637251:0.121688:0.910221:rs1165072081
1 47159 rs540662756 T C . PASS AF=0.0627121 ES:SE:LP:AF:ID -0.0519847:0.0727297:0.323531:0.0627121:rs540662756
1 49298 rs10399793 T C . PASS AF=0.623768 ES:SE:LP:AF:ID -0.0265129:0.0405791:0.289441:0.623768:rs10399793
1 49554 rs539322794 A G . PASS AF=0.0929554 ES:SE:LP:AF:ID -0.154189:0.0625604:1.8628:0.0929554:rs539322794
1 51479 rs116400033 T A . PASS AF=0.21326 ES:SE:LP:AF:ID -0.0228427:0.0434335:0.222616:0.21326:rs116400033
1 54490 rs141149254 G A . PASS AF=0.154391 ES:SE:LP:AF:ID -0.0372344:0.0488659:0.35059:0.154391:rs141149254
1 54676 rs2462492 C T . PASS AF=0.400396 ES:SE:LP:AF:ID 0.0553284:0.0401964:0.772933:0.400396:rs2462492
1 54712 rs573184866 T TTTTC . PASS AF=0.585268 ES:SE:LP:AF:ID -0.0227799:0.0318112:0.324284:0.585268:rs573184866
1 54716 rs1166278911 C T . PASS AF=0.417371 ES:SE:LP:AF:ID -0.0141257:0.036755:0.154442:0.417371:rs1166278911
1 55545 rs28396308 C T . PASS AF=0.253777 ES:SE:LP:AF:ID -0.027941:0.0413367:0.301829:0.253777:rs28396308
1 58814 rs114420996 G A . PASS AF=0.0899979 ES:SE:LP:AF:ID -0.130775:0.0630168:1.42062:0.0899979:rs114420996
1 59040 rs62637815 T C . PASS AF=0.0887883 ES:SE:LP:AF:ID -0.196435:0.063402:2.7107:0.0887883:rs62637815
1 60351 rs62637817 A G . PASS AF=0.0809837 ES:SE:LP:AF:ID -0.191172:0.0657142:2.44079:0.0809837:rs62637817
1 62777 rs3844233 A T . PASS AF=0.438273 ES:SE:LP:AF:ID -0.0074632:0.03493:0.0804978:0.438273:rs3844233
1 63268 rs28664618 T C . PASS AF=0.382186 ES:SE:LP:AF:ID -0.0687054:0.0375905:1.17012:0.382186:rs28664618
1 63671 rs80011619 G A . PASS AF=0.158756 ES:SE:LP:AF:ID -0.0551035:0.0478444:0.603042:0.158756:rs80011619
1 63735 rs61158452 CCTA C . PASS AF=0.315972 ES:SE:LP:AF:ID 0.057627:0.0372489:0.914195:0.315972:rs61158452
1 64931 rs62639104 G A . PASS AF=0.0795793 ES:SE:LP:AF:ID -0.18294:0.0665431:2.22373:0.0795793:rs62639104
1 68082 rs367789441 T C . PASS AF=0.0707801 ES:SE:LP:AF:ID -0.00374669:0.0672913:0.0197248:0.0707801:rs367789441
1 69428 rs140739101 T G . PASS AF=0.0329199 ES:SE:LP:AF:ID -0.094074:0.101712:0.449751:0.0329199:rs140739101
1 69761 rs200505207 A T . PASS AF=0.0738738 ES:SE:LP:AF:ID -0.0277796:0.0661846:0.1709:0.0738738:rs200505207
1 69897 rs200676709 T C . PASS AF=0.751218 ES:SE:LP:AF:ID 0.0321561:0.0422087:0.350512:0.751218:rs200676709
1 74790 rs13328700 C G . PASS AF=0.0340921 ES:SE:LP:AF:ID 9.90923e-05:0.0964355:0.000356209:0.0340921:rs13328700
1 74792 rs1335672253 G A . PASS AF=0.0340921 ES:SE:LP:AF:ID 9.90923e-05:0.0964355:0.000356209:0.0340921:rs1335672253
1 76838 rs563953605 T G . PASS AF=0.0771356 ES:SE:LP:AF:ID -0.1379:0.0677886:1.37752:0.0771356:rs563953605
1 76854 rs367666799 A G . PASS AF=0.0775037 ES:SE:LP:AF:ID -0.00937764:0.0651624:0.0527771:0.0775037:rs367666799
1 77866 rs563593912 C T . PASS AF=0.0769408 ES:SE:LP:AF:ID -0.136439:0.0678054:1.3546:0.0769408:rs563593912
1 77874 rs62641297 G A . PASS AF=0.0769408 ES:SE:LP:AF:ID -0.136439:0.0678054:1.3546:0.0769408:rs62641297
1 81260 rs571136476 C T . PASS AF=0.0414632 ES:SE:LP:AF:ID 0.053209:0.094172:0.242558:0.0414632:rs571136476
1 81587 rs536406113 C T . PASS AF=0.0609432 ES:SE:LP:AF:ID -0.0137532:0.0717193:0.0716416:0.0609432:rs536406113
1 82163 rs139113303 G A . PASS AF=0.0754482 ES:SE:LP:AF:ID -0.029998:0.0660057:0.18743:0.0754482:rs139113303
1 82609 rs149189449 C G . PASS AF=0.0754758 ES:SE:LP:AF:ID -0.0304719:0.0659934:0.190934:0.0754758:rs149189449
1 83514 rs201754587 C T . PASS AF=0.352798 ES:SE:LP:AF:ID 0.000204956:0.0378206:0.00188189:0.352798:rs201754587