{
"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-41,TotalVariants=12382417,VariantsNotRead=0,HarmonisedVariants=12382417,VariantsNotHarmonised=0,SwitchedAlleles=5445005,NormalisedVariants=0,TotalControls=31358,TotalCases=20352,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/17bc5d34-80eb-4d56-ba46-26e48a8cd3cf/call-vcf/inputs/562856219/upload.txt.gz --id ieu-b-41 --json /data/cromwell-executions/qc/17bc5d34-80eb-4d56-ba46-26e48a8cd3cf/call-vcf/inputs/562856219/ieu-b-41_data.json --ref /data/cromwell-executions/qc/17bc5d34-80eb-4d56-ba46-26e48a8cd3cf/call-vcf/inputs/1899004205/human_g1k_v37.fasta --dbsnp /data/cromwell-executions/qc/17bc5d34-80eb-4d56-ba46-26e48a8cd3cf/call-vcf/inputs/-307190728/dbsnp.v153.b37.vcf.gz --out /data/igd/ieu-b-41/ieu-b-41.vcf.gz --rm_chr_prefix --cohort_cases 20352 --cohort_controls 31358; 1.2.1",
"file_date": "2020-08-21T22:44:52.808233",
"bcftools_viewVersion": "1.9+htslib-1.9",
"bcftools_viewCommand": "view -h /data/igd/ieu-b-41/ieu-b-41.vcf.gz; Date=Thu Feb 25 01:35:11 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/17bc5d34-80eb-4d56-ba46-26e48a8cd3cf/call-ldsc/inputs/562856219/ieu-b-41.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-41/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/
Beginning analysis at Fri Aug 21 23:03:01 2020
Reading summary statistics from /data/cromwell-executions/qc/17bc5d34-80eb-4d56-ba46-26e48a8cd3cf/call-ldsc/inputs/562856219/ieu-b-41.vcf.gz ...
Read summary statistics for 12382194 SNPs.
Dropped 99953 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, 1220685 SNPs remain.
After merging with regression SNP LD, 1220685 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.3459 (0.0156)
Lambda GC: 1.3034
Mean Chi^2: 1.3637
Intercept: 1.0194 (0.0077)
Ratio: 0.0534 (0.0212)
Analysis finished at Fri Aug 21 23:04:53 2020
Total time elapsed: 1.0m:52.27s
{
"af_correlation": 0.9559,
"inflation_factor": 1.134,
"mean_EFFECT": 0.0088,
"n": 51710,
"n_snps": 12382417,
"n_clumped_hits": 16,
"n_p_sig": 240,
"n_mono": 1,
"n_ns": 0,
"n_mac": 263227,
"is_snpid_unique": false,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 0,
"n_miss_AF_reference": 402769,
"n_est": 50417.7817,
"ratio_se_n": 0.9874,
"mean_diff": "-Inf",
"ratio_diff": "NaN",
"sd_y_est1": 2.2993,
"sd_y_est2": 2.2703,
"r2_sum1": 0.0492,
"r2_sum2": 0.0093,
"r2_sum3": 0.0095,
"r2_sum4": 0.0105,
"ldsc_nsnp_merge_refpanel_ld": 1220685,
"ldsc_nsnp_merge_regression_ld": 1220685,
"ldsc_observed_scale_h2_beta": 0.3459,
"ldsc_observed_scale_h2_se": 0.0156,
"ldsc_intercept_beta": 1.0194,
"ldsc_intercept_se": 0.0077,
"ldsc_lambda_gc": 1.3034,
"ldsc_mean_chisq": 1.3637,
"ldsc_ratio": 0.0533
}
name | value |
---|---|
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 | 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×N×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, ˆn.ratio_se_n
: ratio_se_n=√ˆn√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
: mean_diff=∑j^βstdj−βjn_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
: ratio_diff=|mean_diffmean_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
: r2=∑j2×β2j×MAFj×(1−MAFj)var1, var1=1.2
: r2=∑j2×β2j×MAFj×(1−MAFj)var2, var2=^sd1y2,3
: r2=∑j2×β2j×MAFj×(1−MAFj)var3, var3=^sd2y2,4
: r2=∑jFjFj+n−2, F=β2jse2j.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 χ2 statistics.ldsc_ratio
: ldsc_intercept_beta−1ldsc_mean_chisq−1, the proportion of the inflation in the mean χ2 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 h2 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | 110 | 0.9999911 | 3 | 59 | 0 | 12357171 | 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 | 8.666664e+00 | 5.773755e+00 | 1.0000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.200000e+01 | ▇▅▃▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.853619e+07 | 5.633116e+07 | 80.0000 | 3.234684e+07 | 6.892030e+07 | 1.142068e+08 | 2.492395e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.819600e-03 | 5.006294e-01 | -45.7722 | -2.369900e-02 | 1.898000e-03 | 3.069600e-02 | 1.121650e+02 | ▁▇▁▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 6.110674e-01 | 2.855158e+01 | 0.0131 | 1.710000e-02 | 3.540000e-02 | 1.118000e-01 | 2.557000e+03 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.797090e-01 | 2.941236e-01 | 0.0000 | 2.205002e-01 | 4.726003e-01 | 7.339999e-01 | 1.000000e+00 | ▇▇▇▆▆ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.797085e-01 | 2.941254e-01 | 0.0000 | 2.205338e-01 | 4.726531e-01 | 7.339817e-01 | 1.000000e+00 | ▇▇▇▆▆ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.801139e-01 | 2.508572e-01 | 0.0000 | 8.161400e-03 | 4.706390e-02 | 2.654260e-01 | 9.996540e-01 | ▇▂▁▁▁ |
numeric | AF_reference | 402769 | 0.9674725 | NA | NA | NA | NA | NA | 1.850055e-01 | 2.454395e-01 | 0.0000 | 6.589500e-03 | 6.749200e-02 | 2.773560e-01 | 1.000000e+00 | ▇▂▁▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.094042e+04 | 1.876209e+04 | 260.0000 | 3.868200e+04 | 5.171000e+04 | 5.171000e+04 | 5.171000e+04 | ▂▁▁▁▇ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
1 | 10611 | rs189107123 | C | G | 0.025502 | 0.1016 | 0.8019000 | 0.8018111 | 0.0160000 | NA | 51710 |
1 | 13302 | rs75241669 | C | T | -0.015398 | 0.0373 | 0.6802006 | 0.6797422 | 0.1170000 | NA | 51710 |
1 | 13327 | rs2691329 | G | C | -0.019101 | 0.0689 | 0.7813003 | 0.7816051 | 0.0335458 | NA | 51710 |
1 | 13980 | rs2592732 | T | C | -0.040403 | 0.0881 | 0.6462998 | 0.6465187 | 0.0186064 | NA | 51710 |
1 | 30923 | rs806731 | G | T | 0.005803 | 0.0281 | 0.8361000 | 0.8363906 | 0.7530000 | 0.8724040 | 51710 |
1 | 51476 | rs2531249 | T | C | -0.319900 | 0.1446 | 0.0269799 | 0.0269453 | 0.0076064 | NA | 49357 |
1 | 51479 | rs116400033 | T | A | -0.007599 | 0.0294 | 0.7949999 | 0.7960447 | 0.1962130 | 0.1281950 | 51710 |
1 | 52058 | rs1199236530 | G | C | -0.080700 | 0.0597 | 0.1765001 | 0.1764525 | 0.0417458 | NA | 51710 |
1 | 52144 | rs190291950 | T | A | -0.180204 | 0.1183 | 0.1278000 | 0.1276887 | 0.0116851 | 0.0009984 | 51050 |
1 | 52238 | rs2691277 | T | G | 0.088099 | 0.0546 | 0.1065999 | 0.1066284 | 0.9449080 | 0.9217250 | 51710 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
22 | 51233300 | rs9616839 | C | T | 0.013400 | 0.0203 | 0.5084005 | 0.5091906 | 0.2933940 | 0.3146960 | 51710 |
22 | 51234048 | rs141330630 | T | C | -0.257398 | 0.6227 | 0.6794007 | 0.6793444 | 0.0060000 | 0.0095847 | 4232 |
22 | 51234159 | rs8138356 | T | A | 0.106196 | 0.1173 | 0.3654004 | 0.3652870 | 0.0082698 | 0.0215655 | 46524 |
22 | 51234677 | rs189571549 | A | C | 0.068397 | 0.1131 | 0.5453006 | 0.5453464 | 0.0083936 | 0.0227636 | 47470 |
22 | 51234799 | rs191117135 | G | A | 0.171303 | 0.1142 | 0.1335999 | 0.1336076 | 0.0081447 | 0.0059904 | 51238 |
22 | 51237063 | rs3896457 | T | C | 0.028297 | 0.0212 | 0.1813001 | 0.1819536 | 0.2511810 | 0.2050720 | 51710 |
22 | 51237069 | rs183661957 | T | C | 0.170397 | 0.5900 | 0.7727002 | 0.7727279 | 0.0050000 | 0.0029952 | 3141 |
22 | 51238249 | rs149733995 | A | C | -0.009396 | 0.0347 | 0.7869008 | 0.7865617 | 0.0756064 | NA | 51710 |
22 | 51242613 | rs140611932 | A | C | 0.173199 | 0.5901 | 0.7691995 | 0.7691340 | 0.0050000 | NA | 3141 |
22 | 51243297 | rs1555938782 | A | T | 0.007004 | 0.0297 | 0.8140000 | 0.8135685 | 0.1400000 | NA | 51710 |
1 10611 rs189107123 C G . PASS AF=0.016 ES:SE:LP:AF:SS:NC:ID 0.025502:0.1016:0.0958798:0.016:51710:20352:rs189107123
1 13302 rs75241669 C T . PASS AF=0.117 ES:SE:LP:AF:SS:NC:ID -0.015398:0.0373:0.167363:0.117:51710:20352:rs75241669
1 13327 rs2691329 G C . PASS AF=0.0335458 ES:SE:LP:AF:SS:NC:ID -0.019101:0.0689:0.107182:0.0335458:51710:20352:rs2691329
1 13980 rs2592732 T C . PASS AF=0.0186064 ES:SE:LP:AF:SS:NC:ID -0.040403:0.0881:0.189566:0.0186064:51710:20352:rs2592732
1 30923 rs1165072081 G T . PASS AF=0.753 ES:SE:LP:AF:SS:NC:ID 0.005803:0.0281:0.0777418:0.753:51710:20352:rs1165072081
1 51476 rs2531249 T C . PASS AF=0.00760642 ES:SE:LP:AF:SS:NC:ID -0.3199:0.1446:1.56896:0.00760642:49357:19237:rs2531249
1 51479 rs116400033 T A . PASS AF=0.196213 ES:SE:LP:AF:SS:NC:ID -0.007599:0.0294:0.0996329:0.196213:51710:20352:rs116400033
1 52058 rs1199236530 G C . PASS AF=0.0417458 ES:SE:LP:AF:SS:NC:ID -0.0807:0.0597:0.753255:0.0417458:51710:20352:rs1199236530
1 52144 rs190291950 T A . PASS AF=0.0116851 ES:SE:LP:AF:SS:NC:ID -0.180204:0.1183:0.893469:0.0116851:51050:20171:rs190291950
1 52238 rs2691277 T G . PASS AF=0.944908 ES:SE:LP:AF:SS:NC:ID 0.088099:0.0546:0.972243:0.944908:51710:20352:rs2691277
1 54421 rs146477069 A G . PASS AF=0.0536064 ES:SE:LP:AF:SS:NC:ID 0.004902:0.0537:0.032452:0.0536064:51710:20352:rs146477069
1 54490 rs141149254 G A . PASS AF=0.148606 ES:SE:LP:AF:SS:NC:ID 0.006797:0.0326:0.0780016:0.148606:51710:20352:rs141149254
1 54676 rs2462492 C T . PASS AF=0.176394 ES:SE:LP:AF:SS:NC:ID -0.029295:0.0307:0.468393:0.176394:51710:20352:rs2462492
1 54753 rs1472236223 T G . PASS AF=0.027 ES:SE:LP:AF:SS:NC:ID -0.0618:0.0765:0.377372:0.027:51710:20352:rs1472236223
1 55164 rs3091274 C A . PASS AF=0.951394 ES:SE:LP:AF:SS:NC:ID 0.058495:0.0585:0.497983:0.951394:51710:20352:rs3091274
1 55299 rs10399749 C T . PASS AF=0.173787 ES:SE:LP:AF:SS:NC:ID 0.032496:0.0306:0.540306:0.173787:51710:20352:rs10399749
1 55326 rs3107975 T C . PASS AF=0.021 ES:SE:LP:AF:SS:NC:ID -0.023599:0.0718:0.129538:0.021:51710:20352:rs3107975
1 55394 rs2949420 T A . PASS AF=0.0133032 ES:SE:LP:AF:SS:NC:ID -0.065702:0.0995:0.293368:0.0133032:51710:20352:rs2949420
1 55816 rs3020699 G A . PASS AF=0.00802301 ES:SE:LP:AF:SS:NC:ID -0.205205:0.143:0.820448:0.00802301:45373:18371:rs3020699
1 55850 rs191890754 C G . PASS AF=0.00760642 ES:SE:LP:AF:SS:NC:ID -0.182097:0.171:0.542118:0.00760642:25915:9678:rs191890754
1 55852 rs184233019 G C . PASS AF=0.00673598 ES:SE:LP:AF:SS:NC:ID -0.114401:0.524:0.0823895:0.00673598:4063:1370:rs184233019
1 57952 rs2691334 A C . PASS AF=0.911857 ES:SE:LP:AF:SS:NC:ID 0.041197:0.0436:0.463063:0.911857:51710:20352:rs2691334
1 58814 rs114420996 G A . PASS AF=0.0855394 ES:SE:LP:AF:SS:NC:ID 0.014002:0.0418:0.131767:0.0855394:51710:20352:rs114420996
1 59040 rs62637815 T C . PASS AF=0.064 ES:SE:LP:AF:SS:NC:ID -0.007502:0.0512:0.0540393:0.064:51710:20352:rs62637815
1 60726 rs2531295 C A . PASS AF=0.0497883 ES:SE:LP:AF:SS:NC:ID -0.041103:0.0559:0.334982:0.0497883:51710:20352:rs2531295
1 61442 rs2531261 A G . PASS AF=0.981197 ES:SE:LP:AF:SS:NC:ID 0.032399:0.1005:0.126738:0.981197:51710:20352:rs2531261
1 61462 rs56992750 T A . PASS AF=0.00735382 ES:SE:LP:AF:SS:NC:ID 0.159803:0.1926:0.390619:0.00735382:36442:14248:rs56992750
1 61987 rs76735897 A G . PASS AF=0.347213 ES:SE:LP:AF:SS:NC:ID -0.045604:0.025:1.16845:0.347213:51710:20352:rs76735897
1 61989 rs77573425 G C . PASS AF=0.347213 ES:SE:LP:AF:SS:NC:ID -0.042803:0.0249:1.06485:0.347213:51710:20352:rs77573425
1 63671 rs80011619 G A . PASS AF=0.146787 ES:SE:LP:AF:SS:NC:ID 0.023297:0.0332:0.316233:0.146787:51710:20352:rs80011619
1 64649 rs181431124 A C . PASS AF=0.0186064 ES:SE:LP:AF:SS:NC:ID -0.001099:0.0888:0.00423322:0.0186064:51710:20352:rs181431124
1 66162 rs201684885 A T . PASS AF=0.333 ES:SE:LP:AF:SS:NC:ID -0.017899:0.0253:0.319211:0.333:51710:20352:rs201684885
1 66176 rs1491257206 T A . PASS AF=0.00757297 ES:SE:LP:AF:SS:NC:ID 0.102196:0.1786:0.246187:0.00757297:44414:18177:rs1491257206
1 66219 rs1557435148 A T . PASS AF=0.016 ES:SE:LP:AF:SS:NC:ID -0.058703:0.0994:0.255629:0.016:51710:20352:rs1557435148
1 66331 rs1557435418 A C . PASS AF=0.006 ES:SE:LP:AF:SS:NC:ID 0.205205:0.2868:0.323947:0.006:21630:8219:rs1557435418
1 66442 rs1227875005 T A . PASS AF=0.0196639 ES:SE:LP:AF:SS:NC:ID 0.021898:0.0916:0.090765:0.0196639:51710:20352:rs1227875005
1 66457 rs1227875005 T A . PASS AF=0.00905161 ES:SE:LP:AF:SS:NC:ID -0.054805:0.1368:0.162096:0.00905161:51710:20352:rs1227875005
1 66507 rs1268339504 T A . PASS AF=0.0981245 ES:SE:LP:AF:SS:NC:ID 0.006399:0.0396:0.0598821:0.0981245:51710:20352:rs1268339504
1 67181 rs28503582 A G . PASS AF=0.009 ES:SE:LP:AF:SS:NC:ID 0.196696:0.1549:0.690157:0.009:38067:14843:rs28503582
1 69511 rs2691305 A G . PASS AF=0.675394 ES:SE:LP:AF:SS:NC:ID 0.033598:0.0249:0.748849:0.675394:51710:20352:rs2691305
1 73841 rs143773730 C T . PASS AF=0.234819 ES:SE:LP:AF:SS:NC:ID -0.059803:0.0279:1.49336:0.234819:51710:20352:rs143773730
1 77462 rs2462497 G A . PASS AF=0.0744606 ES:SE:LP:AF:SS:NC:ID 0.025502:0.0476:0.227019:0.0744606:51710:20352:rs2462497
1 77874 rs62641297 G A . PASS AF=0.0554703 ES:SE:LP:AF:SS:NC:ID -0.064805:0.051:0.691863:0.0554703:51710:20352:rs62641297
1 77961 rs78385339 G A . PASS AF=0.0542394 ES:SE:LP:AF:SS:NC:ID 0.064701:0.0555:0.611721:0.0542394:51710:20352:rs78385339
1 79033 rs2462495 A G . PASS AF=0.957708 ES:SE:LP:AF:SS:NC:ID 0.064304:0.0609:0.535212:0.957708:51710:20352:rs2462495
1 79050 rs2949413 G T . PASS AF=0.923181 ES:SE:LP:AF:SS:NC:ID 0.080104:0.0449:1.1272:0.923181:51710:20352:rs2949413
1 79137 rs143777184 A T . PASS AF=0.007 ES:SE:LP:AF:SS:NC:ID 0.363901:0.334:0.559248:0.007:14237:5197:rs143777184
1 79772 rs147215883 C G . PASS AF=0.0842128 ES:SE:LP:AF:SS:NC:ID -0.062205:0.0444:0.791827:0.0842128:51710:20352:rs147215883
1 82163 rs139113303 G A . PASS AF=0.0593595 ES:SE:LP:AF:SS:NC:ID 0.117801:0.049:1.78941:0.0593595:51710:20352:rs139113303
1 82249 rs1851945 A G . PASS AF=0.0376064 ES:SE:LP:AF:SS:NC:ID -0.046397:0.0651:0.322211:0.0376064:51710:20352:rs1851945