{
"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-5067,TotalVariants=12321875,VariantsNotRead=0,HarmonisedVariants=12321875,VariantsNotHarmonised=0,SwitchedAlleles=11141410,NormalisedVariants=744,TotalControls=487331,TotalCases=954,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/792065d3-b2ea-4ce7-98a2-59d682087fdf/call-vcf/inputs/-261022278/upload.txt.gz --id ieu-b-5067 --json /data/cromwell-executions/qc/792065d3-b2ea-4ce7-98a2-59d682087fdf/call-vcf/inputs/-261022278/ieu-b-5067_data.json --ref /data/cromwell-executions/qc/792065d3-b2ea-4ce7-98a2-59d682087fdf/call-vcf/inputs/1899004205/human_g1k_v37.fasta --dbsnp /data/cromwell-executions/qc/792065d3-b2ea-4ce7-98a2-59d682087fdf/call-vcf/inputs/-307190728/dbsnp.v153.b37.vcf.gz --out /data/igd/ieu-b-5067/ieu-b-5067.vcf.gz --alias alias.txt --cohort_cases 954 --cohort_controls 487331; 1.3.0",
"file_date": "2022-04-23T14:05:40.880189",
"bcftools_viewVersion": "1.9+htslib-1.9",
"bcftools_viewCommand": "view -h /data/cromwell-executions/qc/792065d3-b2ea-4ce7-98a2-59d682087fdf/call-report/inputs/-261022278/ieu-b-5067.vcf.gz; Date=Sat Apr 23 14:33:55 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/792065d3-b2ea-4ce7-98a2-59d682087fdf/call-ldsc/inputs/-261022278/ieu-b-5067.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-5067/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/
Beginning analysis at Sat Apr 23 14:22:04 2022
Reading summary statistics from /data/cromwell-executions/qc/792065d3-b2ea-4ce7-98a2-59d682087fdf/call-ldsc/inputs/-261022278/ieu-b-5067.vcf.gz ...
Read summary statistics for 12320830 SNPs.
Dropped 206220 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: 0.0012 (0.0009)
Lambda GC: 1.0082
Mean Chi^2: 1.0103
Intercept: 0.9993 (0.0062)
Ratio < 0 (usually indicates GC correction).
Analysis finished at Sat Apr 23 14:23:57 2022
Total time elapsed: 1.0m:52.91s
{
"af_correlation": 0.9503,
"inflation_factor": 1,
"mean_EFFECT": 4.4092e-07,
"n": "-Inf",
"n_snps": 12321875,
"n_clumped_hits": 5,
"n_p_sig": 211,
"n_mono": 0,
"n_ns": 1293897,
"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": 1423040,
"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": 0.0012,
"ldsc_observed_scale_h2_se": 0.0009,
"ldsc_intercept_beta": 0.9993,
"ldsc_intercept_se": 0.0062,
"ldsc_lambda_gc": 1.0082,
"ldsc_mean_chisq": 1.0103,
"ldsc_ratio": -0.068
}
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 | 675 | 0.9999452 | 3 | 58 | 0 | 12276232 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 88 | 0 | 17566 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 662 | 0 | 71704 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
logical | N | 12321875 | 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 | 8.757492e+00 | 5.885387e+00 | 1.0000000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.300000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 7.871202e+07 | 5.622121e+07 | 302.0000000 | 3.252510e+07 | 6.928045e+07 | 1.144492e+08 | 2.492405e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.000000e-07 | 4.228000e-04 | -0.0065663 | -1.302000e-04 | -3.400000e-06 | 1.214000e-04 | 8.510400e-03 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 3.074000e-04 | 2.953000e-04 | 0.0000763 | 1.076000e-04 | 1.728000e-04 | 3.988000e-04 | 4.693600e-03 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 5.002115e-01 | 2.881284e-01 | 0.0000000 | 2.500000e-01 | 5.000000e-01 | 7.499995e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 5.002273e-01 | 2.880976e-01 | 0.0000000 | 2.512473e-01 | 4.998708e-01 | 7.495362e-01 | 9.999999e-01 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 2.594005e-01 | 3.020419e-01 | 0.0009980 | 1.660000e-02 | 1.145680e-01 | 4.379330e-01 | 9.990010e-01 | ▇▂▁▁▁ |
numeric | AF_reference | 1423040 | 0.8845111 | NA | NA | NA | NA | NA | NA | NA | 2.132160e-01 | 2.513550e-01 | 0.0000000 | 1.218050e-02 | 1.056310e-01 | 3.376600e-01 | 1.000000e+00 | ▇▂▁▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 10177 | rs1264289758 | AC | A | -0.0000361 | 0.0001381 | 0.7800007 | 0.7936200 | 0.601092 | NA | NA |
1 | 10352 | rs1557426776 | TA | T | -0.0000779 | 0.0001422 | 0.5700002 | 0.5835933 | 0.606764 | NA | NA |
1 | 11008 | rs575272151 | C | G | 0.0001805 | 0.0002364 | 0.4500005 | 0.4450304 | 0.086225 | 0.0880591 | NA |
1 | 11012 | rs544419019 | C | G | 0.0001805 | 0.0002364 | 0.4500005 | 0.4450304 | 0.086225 | 0.0880591 | NA |
1 | 13110 | rs540538026 | G | A | -0.0001479 | 0.0003144 | 0.6300007 | 0.6380144 | 0.058685 | 0.0267572 | NA |
1 | 13116 | rs62635286 | T | G | 0.0001901 | 0.0001861 | 0.3100002 | 0.3070958 | 0.189177 | 0.0970447 | NA |
1 | 13118 | rs200579949 | A | G | 0.0001901 | 0.0001861 | 0.3100002 | 0.3070958 | 0.189177 | 0.0970447 | NA |
1 | 13273 | rs531730856 | G | C | 0.0002088 | 0.0002177 | 0.3400001 | 0.3375016 | 0.134135 | 0.0950479 | NA |
1 | 14464 | rs546169444 | A | T | -0.0000501 | 0.0001984 | 0.8100000 | 0.8006472 | 0.156897 | 0.0958466 | NA |
1 | 14599 | rs531646671 | T | A | 0.0000763 | 0.0001805 | 0.6700003 | 0.6724162 | 0.191556 | 0.1475640 | NA |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154901936 | rs697727 | A | G | 0.0000126 | 8.87e-05 | 0.8800001 | 0.8873662 | 0.751936 | 0.643179 | NA |
23 | 154901964 | rs697726 | G | A | -0.0001005 | 9.36e-05 | 0.2800000 | 0.2831318 | 0.347899 | 0.117616 | NA |
23 | 154902105 | rs696316 | G | T | 0.0000128 | 8.87e-05 | 0.8800001 | 0.8853971 | 0.751891 | 0.636026 | NA |
23 | 154902889 | rs697725 | A | T | 0.0000066 | 8.87e-05 | 0.9400001 | 0.9402976 | 0.751565 | 0.584106 | NA |
23 | 154903118 | rs479770 | G | A | 0.0000123 | 8.87e-05 | 0.8900000 | 0.8902009 | 0.751980 | 0.643444 | NA |
23 | 154903224 | rs480725 | A | T | 0.0000123 | 8.87e-05 | 0.8900000 | 0.8901049 | 0.751983 | 0.643444 | NA |
23 | 154903937 | rs674707 | G | A | 0.0000122 | 8.88e-05 | 0.8900000 | 0.8906957 | 0.751993 | 0.643444 | NA |
23 | 154909055 | rs473529 | C | G | 0.0000189 | 8.36e-05 | 0.8200001 | 0.8206071 | 0.304737 | 0.463046 | NA |
23 | 154918266 | rs642043 | C | T | 0.0000297 | 8.38e-05 | 0.7199992 | 0.7232336 | 0.302582 | 0.478675 | NA |
23 | 154927581 | rs644138 | G | A | 0.0000304 | 8.38e-05 | 0.7199992 | 0.7171048 | 0.302456 | 0.463576 | NA |
1 10177 rs1264289758 AC A . PASS AF=0.601092 ES:SE:LP:AF:ID -3.6135e-05:0.000138124:0.107905:0.601092:rs1264289758
1 10352 rs1557426776 TA T . PASS AF=0.606764 ES:SE:LP:AF:ID -7.79252e-05:0.000142162:0.244125:0.606764:rs1557426776
1 11008 rs575272151 C G . PASS AF=0.086225 ES:SE:LP:AF:ID 0.000180538:0.000236391:0.346787:0.086225:rs575272151
1 11012 rs544419019 C G . PASS AF=0.086225 ES:SE:LP:AF:ID 0.000180538:0.000236391:0.346787:0.086225:rs544419019
1 13110 rs540538026 G A . PASS AF=0.058685 ES:SE:LP:AF:ID -0.00014794:0.000314447:0.200659:0.058685:rs540538026
1 13116 rs62635286 T G . PASS AF=0.189177 ES:SE:LP:AF:ID 0.000190051:0.000186081:0.508638:0.189177:rs62635286
1 13118 rs62028691 A G . PASS AF=0.189177 ES:SE:LP:AF:ID 0.000190051:0.000186081:0.508638:0.189177:rs62028691
1 13273 rs531730856 G C . PASS AF=0.134135 ES:SE:LP:AF:ID 0.000208846:0.000217749:0.468521:0.134135:rs531730856
1 14464 rs546169444 A T . PASS AF=0.156897 ES:SE:LP:AF:ID -5.00883e-05:0.000198362:0.091515:0.156897:rs546169444
1 14599 rs707680 T A . PASS AF=0.191556 ES:SE:LP:AF:ID 7.63072e-05:0.000180466:0.173925:0.191556:rs707680
1 14604 rs1418508701 A G . PASS AF=0.191556 ES:SE:LP:AF:ID 7.63072e-05:0.000180466:0.173925:0.191556:rs1418508701
1 14930 rs6682385 A G . PASS AF=0.473818 ES:SE:LP:AF:ID 3.65473e-05:0.00014003:0.102373:0.473818:rs6682385
1 14933 rs199856693 G A . PASS AF=0.045079 ES:SE:LP:AF:ID 0.000187699:0.000344219:0.229148:0.045079:rs199856693
1 15211 rs3982632 T G . PASS AF=0.741354 ES:SE:LP:AF:ID 5.75894e-05:0.000161922:0.130768:0.741354:rs3982632
1 15820 rs1316988498 G T . PASS AF=0.275123 ES:SE:LP:AF:ID -0.000283168:0.000166086:1.05061:0.275123:rs1316988498
1 15903 rs557514207 GC G . PASS AF=0.581159 ES:SE:LP:AF:ID 0.000125366:0.000136946:0.443698:0.581159:rs557514207
1 28590 rs1344649620 T TTGG . PASS AF=0.956571 ES:SE:LP:AF:ID -0.000228295:0.000389946:0.251812:0.956571:rs1344649620
1 30923 rs1165072081 G T . PASS AF=0.910221 ES:SE:LP:AF:ID 0.000108586:0.000258524:0.161151:0.910221:rs1165072081
1 47159 rs540662756 T C . PASS AF=0.062712 ES:SE:LP:AF:ID -0.000313337:0.000295161:0.522879:0.062712:rs540662756
1 49298 rs10399793 T C . PASS AF=0.623767 ES:SE:LP:AF:ID 2.53493e-05:0.000164244:0.0555173:0.623767:rs10399793
1 49554 rs539322794 A G . PASS AF=0.092954 ES:SE:LP:AF:ID 3.48594e-05:0.000252818:0.05061:0.092954:rs539322794
1 51479 rs116400033 T A . PASS AF=0.21326 ES:SE:LP:AF:ID 0.000122702:0.000175754:0.309804:0.21326:rs116400033
1 54490 rs141149254 G A . PASS AF=0.154391 ES:SE:LP:AF:ID 0.000141327:0.000197455:0.327902:0.154391:rs141149254
1 54676 rs2462492 C T . PASS AF=0.400395 ES:SE:LP:AF:ID -0.000176717:0.000162731:0.568636:0.400395:rs2462492
1 54712 rs573184866 TTTTC T . PASS AF=0.414731 ES:SE:LP:AF:ID -0.000196449:0.000128705:0.920819:0.414731:rs573184866
1 54716 rs1166278911 C T . PASS AF=0.41737 ES:SE:LP:AF:ID -0.000118042:0.000148614:0.366532:0.41737:rs1166278911
1 55545 rs28396308 C T . PASS AF=0.253776 ES:SE:LP:AF:ID 9.31796e-05:0.000167186:0.244125:0.253776:rs28396308
1 58814 rs114420996 G A . PASS AF=0.089998 ES:SE:LP:AF:ID 7.06424e-05:0.000254835:0.102373:0.089998:rs114420996
1 59040 rs62637815 T C . PASS AF=0.088788 ES:SE:LP:AF:ID -2.85862e-05:0.000255873:0.0409586:0.088788:rs62637815
1 60351 rs62637817 A G . PASS AF=0.080983 ES:SE:LP:AF:ID -1.93746e-05:0.000265367:0.0315171:0.080983:rs62637817
1 62777 rs3844233 A T . PASS AF=0.438272 ES:SE:LP:AF:ID 0.000297073:0.000141262:1.4437:0.438272:rs3844233
1 63268 rs28664618 T C . PASS AF=0.382184 ES:SE:LP:AF:ID -3.81159e-05:0.000151846:0.091515:0.382184:rs28664618
1 63671 rs80011619 G A . PASS AF=0.158758 ES:SE:LP:AF:ID -0.000139738:0.000193389:0.327902:0.158758:rs80011619
1 63735 rs61158452 C CCTA . PASS AF=0.684027 ES:SE:LP:AF:ID 0.000118379:0.000150592:0.366532:0.684027:rs61158452
1 64931 rs62639104 G A . PASS AF=0.079579 ES:SE:LP:AF:ID -5.78159e-05:0.00026864:0.0861861:0.079579:rs62639104
1 68082 rs367789441 T C . PASS AF=0.070781 ES:SE:LP:AF:ID -0.00011906:0.000271993:0.180456:0.070781:rs367789441
1 69428 rs140739101 T G . PASS AF=0.032919 ES:SE:LP:AF:ID -9.2192e-05:0.000411557:0.0861861:0.032919:rs140739101
1 69761 rs200505207 A T . PASS AF=0.073875 ES:SE:LP:AF:ID -4.50863e-06:0.000267729:0.00877392:0.073875:rs200505207
1 69897 rs200676709 T C . PASS AF=0.751221 ES:SE:LP:AF:ID 4.04069e-05:0.000170609:0.0861861:0.751221:rs200676709
1 74790 rs13328700 C G . PASS AF=0.034093 ES:SE:LP:AF:ID 0.000484739:0.00039105:0.657577:0.034093:rs13328700
1 74792 rs1335672253 G A . PASS AF=0.034093 ES:SE:LP:AF:ID 0.000484739:0.00039105:0.657577:0.034093:rs1335672253
1 76838 rs563953605 T G . PASS AF=0.077135 ES:SE:LP:AF:ID -7.06748e-05:0.00027376:0.102373:0.077135:rs563953605
1 76854 rs367666799 A G . PASS AF=0.077503 ES:SE:LP:AF:ID -0.000343308:0.000264035:0.69897:0.077503:rs367666799
1 77866 rs563593912 C T . PASS AF=0.07694 ES:SE:LP:AF:ID -7.10739e-05:0.000273827:0.102373:0.07694:rs563593912
1 77874 rs62641297 G A . PASS AF=0.07694 ES:SE:LP:AF:ID -7.10739e-05:0.000273827:0.102373:0.07694:rs62641297
1 81260 rs571136476 C T . PASS AF=0.041463 ES:SE:LP:AF:ID -0.000184602:0.000381781:0.207608:0.041463:rs571136476
1 81587 rs536406113 C T . PASS AF=0.060944 ES:SE:LP:AF:ID -0.000148861:0.000289892:0.221849:0.060944:rs536406113
1 82163 rs139113303 G A . PASS AF=0.075448 ES:SE:LP:AF:ID -0.000316781:0.000267443:0.619789:0.075448:rs139113303
1 82609 rs149189449 C G . PASS AF=0.075475 ES:SE:LP:AF:ID -0.000322451:0.000267384:0.619789:0.075475:rs149189449
1 83514 rs201754587 C T . PASS AF=0.352797 ES:SE:LP:AF:ID -4.97383e-05:0.000152917:0.130768:0.352797:rs201754587