{
"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-5099,TotalVariants=7588946,VariantsNotRead=0,HarmonisedVariants=7588946,VariantsNotHarmonised=0,SwitchedAlleles=7588946,NormalisedVariants=0,TotalControls=243649,TotalCases=76755,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/f9495bb7-f355-431a-91c5-7a82fc3f84a8/call-vcf/inputs/-261022183/upload.txt.gz --id ieu-b-5099 --json /data/cromwell-executions/qc/f9495bb7-f355-431a-91c5-7a82fc3f84a8/call-vcf/inputs/-261022183/ieu-b-5099_data.json --ref /data/cromwell-executions/qc/f9495bb7-f355-431a-91c5-7a82fc3f84a8/call-vcf/inputs/1899004205/human_g1k_v37.fasta --dbsnp /data/cromwell-executions/qc/f9495bb7-f355-431a-91c5-7a82fc3f84a8/call-vcf/inputs/-307190728/dbsnp.v153.b37.vcf.gz --out /data/igd/ieu-b-5099/ieu-b-5099.vcf.gz --alias alias.txt --cohort_cases 76755 --cohort_controls 243649; 1.3.0",
"file_date": "2023-02-03T03:31:45.232869",
"bcftools_viewVersion": "1.9+htslib-1.9",
"bcftools_viewCommand": "view -h /data/cromwell-executions/qc/f9495bb7-f355-431a-91c5-7a82fc3f84a8/call-report/inputs/-261022183/ieu-b-5099.vcf.gz; Date=Fri Feb 3 03:52:23 2023"
}
*********************************************************************
* 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/f9495bb7-f355-431a-91c5-7a82fc3f84a8/call-ldsc/inputs/-261022183/ieu-b-5099.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-5099/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/
Beginning analysis at Fri Feb 3 03:43:02 2023
Reading summary statistics from /data/cromwell-executions/qc/f9495bb7-f355-431a-91c5-7a82fc3f84a8/call-ldsc/inputs/-261022183/ieu-b-5099.vcf.gz ...
Read summary statistics for 7588838 SNPs.
Dropped 26714 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, 1214037 SNPs remain.
After merging with regression SNP LD, 1214037 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.2974 (0.0091)
Lambda GC: 1.7809
Mean Chi^2: 2.1114
Intercept: 1.0698 (0.0108)
Ratio: 0.0628 (0.0098)
Analysis finished at Fri Feb 3 03:44:49 2023
Total time elapsed: 1.0m:46.36s
{
"af_correlation": 0.9693,
"inflation_factor": 1.6505,
"mean_EFFECT": 0.0016,
"n": 175799,
"n_snps": 7588946,
"n_clumped_hits": 217,
"n_p_sig": 21790,
"n_mono": 0,
"n_ns": 0,
"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": 75202,
"n_est": 174806.5405,
"ratio_se_n": 0.9972,
"mean_diff": -0.001,
"ratio_diff": 13.7975,
"sd_y_est1": 2.2838,
"sd_y_est2": 2.2774,
"r2_sum1": 0.2895,
"r2_sum2": 0.0555,
"r2_sum3": 0.0558,
"r2_sum4": 0.0555,
"ldsc_nsnp_merge_refpanel_ld": 1214037,
"ldsc_nsnp_merge_regression_ld": 1214037,
"ldsc_observed_scale_h2_beta": 0.2974,
"ldsc_observed_scale_h2_se": 0.0091,
"ldsc_intercept_beta": 1.0698,
"ldsc_intercept_se": 0.0108,
"ldsc_lambda_gc": 1.7809,
"ldsc_mean_chisq": 2.1114,
"ldsc_ratio": 0.0628
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | TRUE |
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 | 75 | 0.9999901 | 3 | 58 | 0 | 7584007 | 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 | 8.668124e+00 | 5.770671e+00 | 1.00000e+00 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.300000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.867553e+07 | 5.646020e+07 | 8.28000e+02 | 3.217146e+07 | 6.913254e+07 | 1.146072e+08 | 2.492223e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.621600e-03 | 2.198990e-02 | -5.28897e-01 | -9.702800e-03 | 9.004000e-04 | 1.210290e-02 | 3.035000e-01 | ▁▁▁▇▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.533990e-02 | 9.907300e-03 | 6.20000e-03 | 8.400000e-03 | 1.110000e-02 | 1.850000e-02 | 1.273000e-01 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.192938e-01 | 3.080377e-01 | 0.00000e+00 | 1.327000e-01 | 3.861998e-01 | 6.846002e-01 | 1.000000e+00 | ▇▅▅▃▃ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.193093e-01 | 3.080423e-01 | 0.00000e+00 | 1.325625e-01 | 3.861551e-01 | 6.845972e-01 | 1.000000e+00 | ▇▅▅▃▃ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.596234e-01 | 2.552765e-01 | 1.10000e-02 | 5.100000e-02 | 1.610000e-01 | 4.050000e-01 | 9.887000e-01 | ▇▂▂▁▁ |
numeric | AF_reference | 75202 | 0.9900906 | NA | NA | NA | NA | NA | 2.574915e-01 | 2.525476e-01 | 0.00000e+00 | 5.051920e-02 | 1.685300e-01 | 4.019570e-01 | 1.000000e+00 | ▇▃▂▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.736953e+05 | 4.706873e+03 | 1.49468e+05 | 1.757990e+05 | 1.757990e+05 | 1.757990e+05 | 1.757990e+05 | ▁▁▁▁▇ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 693731 | rs12238997 | A | G | -0.0052959 | 0.0155 | 0.7326001 | 0.7325961 | 0.122 | 0.1417730 | 161405 |
1 | 706368 | rs55727773 | A | G | 0.0028039 | 0.0146 | 0.8477000 | 0.8477030 | 0.470 | 0.2751600 | 161405 |
1 | 714596 | rs149887893 | T | C | 0.0447986 | 0.0373 | 0.2297000 | 0.2297377 | 0.031 | NA | 161405 |
1 | 715265 | rs12184267 | C | T | 0.0473956 | 0.0378 | 0.2098998 | 0.2098959 | 0.031 | 0.0275559 | 161405 |
1 | 715367 | rs12184277 | A | G | 0.0447045 | 0.0375 | 0.2332002 | 0.2332142 | 0.032 | 0.0281550 | 161405 |
1 | 717485 | rs12184279 | C | A | 0.0430954 | 0.0380 | 0.2568000 | 0.2567570 | 0.031 | NA | 161405 |
1 | 717587 | rs144155419 | G | A | 0.0361973 | 0.0563 | 0.5203002 | 0.5202656 | 0.016 | 0.0045927 | 161405 |
1 | 720381 | rs116801199 | G | T | 0.0430015 | 0.0346 | 0.2139001 | 0.2139349 | 0.033 | 0.0359425 | 161405 |
1 | 721290 | rs12565286 | G | C | 0.0440982 | 0.0344 | 0.1999001 | 0.1998692 | 0.033 | 0.0371406 | 161405 |
1 | 722670 | rs116030099 | T | C | 0.0724954 | 0.0320 | 0.0234801 | 0.0234832 | 0.095 | 0.0413339 | 161405 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154915619 | rs571421 | G | A | -0.0335025 | 0.0077 | 0.0000128 | 0.0000136 | 0.264 | 0.3565560 | 163862 |
23 | 154915975 | rs672932 | G | A | -0.0317990 | 0.0077 | 0.0000360 | 0.0000363 | 0.266 | 0.3637090 | 163862 |
23 | 154916845 | rs669237 | G | T | -0.0308977 | 0.0077 | 0.0000654 | 0.0000600 | 0.275 | 0.4166890 | 163862 |
23 | 154918242 | rs73562846 | C | T | -0.0419957 | 0.0109 | 0.0001263 | 0.0001168 | 0.131 | 0.0691391 | 163862 |
23 | 154918266 | rs642043 | C | T | -0.0305971 | 0.0077 | 0.0000682 | 0.0000708 | 0.326 | 0.4786750 | 163862 |
23 | 154918383 | rs641588 | G | T | -0.0335025 | 0.0077 | 0.0000133 | 0.0000136 | 0.263 | 0.3565560 | 163862 |
23 | 154925045 | rs509981 | C | T | -0.0347009 | 0.0077 | 0.0000063 | 0.0000066 | 0.266 | 0.3634440 | 163862 |
23 | 154927199 | rs645904 | C | T | -0.0369007 | 0.0108 | 0.0006525 | 0.0006338 | 0.174 | 0.3674170 | 163862 |
23 | 154927581 | rs644138 | G | A | -0.0305001 | 0.0078 | 0.0000877 | 0.0000922 | 0.324 | 0.4635760 | 163862 |
23 | 154929412 | rs557132 | C | T | -0.0343048 | 0.0078 | 0.0000108 | 0.0000109 | 0.264 | 0.3568210 | 163862 |
1 693731 rs12238997 A G . PASS AF=0.122 ES:SE:LP:AF:SS:SI:NC:ID -0.00529595:0.0155:0.135133:0.122:161405:0.567:67390:rs12238997
1 706368 rs963699400 A G . PASS AF=0.47 ES:SE:LP:AF:SS:SI:NC:ID 0.00280393:0.0146:0.0717578:0.47:161405:0.289:67390:rs963699400
1 714596 rs149887893 T C . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0447986:0.0373:0.638839:0.031:161405:0.422:67390:rs149887893
1 715265 rs12184267 C T . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0473956:0.0378:0.677988:0.031:161405:0.418:67390:rs12184267
1 715367 rs12184277 A G . PASS AF=0.032 ES:SE:LP:AF:SS:SI:NC:ID 0.0447045:0.0375:0.632271:0.032:161405:0.42:67390:rs12184277
1 717485 rs12184279 C A . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0430954:0.038:0.590405:0.031:161405:0.418:67390:rs12184279
1 717587 rs144155419 G A . PASS AF=0.016 ES:SE:LP:AF:SS:SI:NC:ID 0.0361973:0.0563:0.283746:0.016:161405:0.332:67390:rs144155419
1 720381 rs116801199 G T . PASS AF=0.033 ES:SE:LP:AF:SS:SI:NC:ID 0.0430015:0.0346:0.669789:0.033:161405:0.457:67390:rs116801199
1 721290 rs12565286 G C . PASS AF=0.033 ES:SE:LP:AF:SS:SI:NC:ID 0.0440982:0.0344:0.699187:0.033:161405:0.462:67390:rs12565286
1 722670 rs116030099 T C . PASS AF=0.095 ES:SE:LP:AF:SS:SI:NC:ID 0.0724954:0.032:1.6293:0.095:161405:0.261:67390:rs116030099
1 723891 rs2977670 G C . PASS AF=0.9327 ES:SE:LP:AF:SS:SI:NC:ID 0.00589736:0.0236:0.0954467:0.9327:161405:0.41:67390:rs2977670
1 726794 rs28454925 C G . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0440041:0.0373:0.623241:0.031:161405:0.429:67390:rs28454925
1 729632 rs116720794 C T . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0435967:0.0374:0.613144:0.031:161405:0.428:67390:rs116720794
1 729679 rs4951859 C G . PASS AF=0.814 ES:SE:LP:AF:SS:SI:NC:ID 0.00399798:0.012:0.131356:0.814:161405:0.66:67390:rs4951859
1 730087 rs148120343 T C . PASS AF=0.051 ES:SE:LP:AF:SS:SI:NC:ID -0.0195967:0.026:0.345823:0.051:161405:0.446:67390:rs148120343
1 731718 rs58276399 T C . PASS AF=0.13 ES:SE:LP:AF:SS:SI:NC:ID -9.9995e-05:0.0139:0.00248256:0.13:161405:0.677:67390:rs58276399
1 732989 rs369030935 C T . PASS AF=0.021 ES:SE:LP:AF:SS:SI:NC:ID -0.0226026:0.0728:0.121363:0.021:161405:0.244:67390:rs369030935
1 734349 rs141242758 T C . PASS AF=0.128 ES:SE:LP:AF:SS:SI:NC:ID 0.00140098:0.0138:0.0366372:0.128:161405:0.684:67390:rs141242758
1 736289 rs1254887344 T A . PASS AF=0.133 ES:SE:LP:AF:SS:SI:NC:ID 0.00490199:0.014:0.138944:0.133:161405:0.656:67390:rs1254887344
1 752478 rs146277091 G A . PASS AF=0.032 ES:SE:LP:AF:SS:SI:NC:ID 0.0613011:0.035:1.09925:0.032:175799:0.461:74776:rs146277091
1 752566 rs3094315 G A . PASS AF=0.821 ES:SE:LP:AF:SS:SI:NC:ID -0.00299551:0.0109:0.105241:0.821:175799:0.806:74776:rs3094315
1 752721 rs3131972 A G . PASS AF=0.798 ES:SE:LP:AF:SS:SI:NC:ID 0.00160128:0.0106:0.055468:0.798:175799:0.769:74776:rs3131972
1 753405 rs3115860 C A . PASS AF=0.846 ES:SE:LP:AF:SS:SI:NC:ID 0.00290421:0.0117:0.09442:0.846:175799:0.789:74776:rs3115860
1 753541 rs1388595942 G A . PASS AF=0.175 ES:SE:LP:AF:SS:SI:NC:ID -0.00539542:0.0112:0.200866:0.175:175799:0.744:74776:rs1388595942
1 754063 rs12184312 G T . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0697038:0.0364:1.25735:0.031:175799:0.436:74776:rs12184312
1 754105 rs12184325 C T . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0758017:0.0358:1.46623:0.031:175799:0.441:74776:rs12184325
1 754182 rs3131969 A G . PASS AF=0.82 ES:SE:LP:AF:SS:SI:NC:ID 0.00729656:0.0111:0.291154:0.82:175799:0.751:74776:rs3131969
1 754192 rs3131968 A G . PASS AF=0.82 ES:SE:LP:AF:SS:SI:NC:ID 0.00739729:0.0111:0.296279:0.82:175799:0.751:74776:rs3131968
1 754211 rs12184313 G A . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0708947:0.0354:1.34602:0.031:175799:0.439:74776:rs12184313
1 754334 rs3131967 T C . PASS AF=0.822 ES:SE:LP:AF:SS:SI:NC:ID 0.00670241:0.0112:0.259795:0.822:175799:0.754:74776:rs3131967
1 754503 rs3115859 G A . PASS AF=0.799 ES:SE:LP:AF:SS:SI:NC:ID 0.00190181:0.0105:0.0651482:0.799:175799:0.759:74776:rs3115859
1 754629 rs10454459 A G . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.071496:0.0355:1.35823:0.031:175799:0.439:74776:rs10454459
1 754964 rs3131966 C T . PASS AF=0.799 ES:SE:LP:AF:SS:SI:NC:ID 0.00150113:0.0106:0.0517827:0.799:175799:0.759:74776:rs3131966
1 755775 rs3131965 A G . PASS AF=0.837 ES:SE:LP:AF:SS:SI:NC:ID -0.00410158:0.0117:0.139123:0.837:161405:0.788:67390:rs3131965
1 755890 rs1280367067 A T . PASS AF=0.846 ES:SE:LP:AF:SS:SI:NC:ID 0.00240288:0.0116:0.0777418:0.846:175799:0.782:74776:rs1280367067
1 756604 rs3131962 A G . PASS AF=0.844 ES:SE:LP:AF:SS:SI:NC:ID 0.00280393:0.0116:0.0909256:0.844:175799:0.783:74776:rs3131962
1 757640 rs3115853 G A . PASS AF=0.813 ES:SE:LP:AF:SS:SI:NC:ID 0.00910129:0.0111:0.387004:0.813:175799:0.751:74776:rs3115853
1 757734 rs1557551770 C T . PASS AF=0.845 ES:SE:LP:AF:SS:SI:NC:ID 0.00250313:0.0116:0.0814979:0.845:175799:0.784:74776:rs1557551770
1 757936 rs1360886751 C A . PASS AF=0.845 ES:SE:LP:AF:SS:SI:NC:ID 0.00250313:0.0116:0.0809219:0.845:175799:0.784:74776:rs1360886751
1 758144 rs3131956 A G . PASS AF=0.845 ES:SE:LP:AF:SS:SI:NC:ID 0.00160128:0.0116:0.0505612:0.845:175799:0.784:74776:rs3131956
1 758626 rs3131954 C T . PASS AF=0.845 ES:SE:LP:AF:SS:SI:NC:ID 0.0031951:0.0116:0.106682:0.845:175799:0.783:74776:rs3131954
1 759036 rs114525117 G A . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0717001:0.0356:1.35625:0.031:175799:0.419:74776:rs114525117
1 760912 rs1048488 C T . PASS AF=0.823 ES:SE:LP:AF:SS:SI:NC:ID -0.00390238:0.011:0.139542:0.823:175799:0.788:74776:rs1048488
1 760998 rs148828841 C A . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0717968:0.036:1.33847:0.031:175799:0.415:74776:rs148828841
1 761147 rs3115850 T C . PASS AF=0.823 ES:SE:LP:AF:SS:SI:NC:ID -0.00380276:0.011:0.135786:0.823:175799:0.787:74776:rs3115850
1 761606 rs377377186 G A . PASS AF=0.031 ES:SE:LP:AF:SS:SI:NC:ID 0.0499048:0.0394:0.687611:0.031:161405:0.388:67390:rs377377186
1 761732 rs2286139 C T . PASS AF=0.808 ES:SE:LP:AF:SS:SI:NC:ID 0.00769957:0.0111:0.310514:0.808:175799:0.752:74776:rs2286139
1 761881 rs374493323 A C . PASS AF=0.029 ES:SE:LP:AF:SS:SI:NC:ID 0.0795953:0.0387:1.40187:0.029:175799:0.418:74776:rs374493323
1 763394 rs3115847 G A . PASS AF=0.678 ES:SE:LP:AF:SS:SI:NC:ID 0.00940408:0.0124:0.346209:0.678:175799:0.395:74776:rs3115847
1 766007 rs61768174 A C . PASS AF=0.112 ES:SE:LP:AF:SS:SI:NC:ID 0.00180162:0.0142:0.0452752:0.112:165729:0.718:68624:rs61768174