{
"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-111,TotalVariants=12321875,VariantsNotRead=0,HarmonisedVariants=12321875,VariantsNotHarmonised=0,SwitchedAlleles=11141410,NormalisedVariants=744,StudyType=Continuous>",
"contig": "<ID=1,length=249250621,assembly=HG19/GRCh37>",
"contig.1": "<ID=2,length=243199373,assembly=HG19/GRCh37>",
"contig.2": "<ID=3,length=198022430,assembly=HG19/GRCh37>",
"contig.3": "<ID=4,length=191154276,assembly=HG19/GRCh37>",
"contig.4": "<ID=5,length=180915260,assembly=HG19/GRCh37>",
"contig.5": "<ID=6,length=171115067,assembly=HG19/GRCh37>",
"contig.6": "<ID=7,length=159138663,assembly=HG19/GRCh37>",
"contig.7": "<ID=8,length=146364022,assembly=HG19/GRCh37>",
"contig.8": "<ID=9,length=141213431,assembly=HG19/GRCh37>",
"contig.9": "<ID=10,length=135534747,assembly=HG19/GRCh37>",
"contig.10": "<ID=11,length=135006516,assembly=HG19/GRCh37>",
"contig.11": "<ID=12,length=133851895,assembly=HG19/GRCh37>",
"contig.12": "<ID=13,length=115169878,assembly=HG19/GRCh37>",
"contig.13": "<ID=14,length=107349540,assembly=HG19/GRCh37>",
"contig.14": "<ID=15,length=102531392,assembly=HG19/GRCh37>",
"contig.15": "<ID=16,length=90354753,assembly=HG19/GRCh37>",
"contig.16": "<ID=17,length=81195210,assembly=HG19/GRCh37>",
"contig.17": "<ID=18,length=78077248,assembly=HG19/GRCh37>",
"contig.18": "<ID=19,length=59128983,assembly=HG19/GRCh37>",
"contig.19": "<ID=20,length=63025520,assembly=HG19/GRCh37>",
"contig.20": "<ID=21,length=48129895,assembly=HG19/GRCh37>",
"contig.21": "<ID=22,length=51304566,assembly=HG19/GRCh37>",
"contig.22": "<ID=X,length=155270560,assembly=HG19/GRCh37>",
"contig.23": "<ID=Y,length=59373566,assembly=HG19/GRCh37>",
"contig.24": "<ID=MT,length=16569,assembly=HG19/GRCh37>",
"contig.25": "<ID=GL000207.1,length=4262,assembly=HG19/GRCh37>",
"contig.26": "<ID=GL000226.1,length=15008,assembly=HG19/GRCh37>",
"contig.27": "<ID=GL000229.1,length=19913,assembly=HG19/GRCh37>",
"contig.28": "<ID=GL000231.1,length=27386,assembly=HG19/GRCh37>",
"contig.29": "<ID=GL000210.1,length=27682,assembly=HG19/GRCh37>",
"contig.30": "<ID=GL000239.1,length=33824,assembly=HG19/GRCh37>",
"contig.31": "<ID=GL000235.1,length=34474,assembly=HG19/GRCh37>",
"contig.32": "<ID=GL000201.1,length=36148,assembly=HG19/GRCh37>",
"contig.33": "<ID=GL000247.1,length=36422,assembly=HG19/GRCh37>",
"contig.34": "<ID=GL000245.1,length=36651,assembly=HG19/GRCh37>",
"contig.35": "<ID=GL000197.1,length=37175,assembly=HG19/GRCh37>",
"contig.36": "<ID=GL000203.1,length=37498,assembly=HG19/GRCh37>",
"contig.37": "<ID=GL000246.1,length=38154,assembly=HG19/GRCh37>",
"contig.38": "<ID=GL000249.1,length=38502,assembly=HG19/GRCh37>",
"contig.39": "<ID=GL000196.1,length=38914,assembly=HG19/GRCh37>",
"contig.40": "<ID=GL000248.1,length=39786,assembly=HG19/GRCh37>",
"contig.41": "<ID=GL000244.1,length=39929,assembly=HG19/GRCh37>",
"contig.42": "<ID=GL000238.1,length=39939,assembly=HG19/GRCh37>",
"contig.43": "<ID=GL000202.1,length=40103,assembly=HG19/GRCh37>",
"contig.44": "<ID=GL000234.1,length=40531,assembly=HG19/GRCh37>",
"contig.45": "<ID=GL000232.1,length=40652,assembly=HG19/GRCh37>",
"contig.46": "<ID=GL000206.1,length=41001,assembly=HG19/GRCh37>",
"contig.47": "<ID=GL000240.1,length=41933,assembly=HG19/GRCh37>",
"contig.48": "<ID=GL000236.1,length=41934,assembly=HG19/GRCh37>",
"contig.49": "<ID=GL000241.1,length=42152,assembly=HG19/GRCh37>",
"contig.50": "<ID=GL000243.1,length=43341,assembly=HG19/GRCh37>",
"contig.51": "<ID=GL000242.1,length=43523,assembly=HG19/GRCh37>",
"contig.52": "<ID=GL000230.1,length=43691,assembly=HG19/GRCh37>",
"contig.53": "<ID=GL000237.1,length=45867,assembly=HG19/GRCh37>",
"contig.54": "<ID=GL000233.1,length=45941,assembly=HG19/GRCh37>",
"contig.55": "<ID=GL000204.1,length=81310,assembly=HG19/GRCh37>",
"contig.56": "<ID=GL000198.1,length=90085,assembly=HG19/GRCh37>",
"contig.57": "<ID=GL000208.1,length=92689,assembly=HG19/GRCh37>",
"contig.58": "<ID=GL000191.1,length=106433,assembly=HG19/GRCh37>",
"contig.59": "<ID=GL000227.1,length=128374,assembly=HG19/GRCh37>",
"contig.60": "<ID=GL000228.1,length=129120,assembly=HG19/GRCh37>",
"contig.61": "<ID=GL000214.1,length=137718,assembly=HG19/GRCh37>",
"contig.62": "<ID=GL000221.1,length=155397,assembly=HG19/GRCh37>",
"contig.63": "<ID=GL000209.1,length=159169,assembly=HG19/GRCh37>",
"contig.64": "<ID=GL000218.1,length=161147,assembly=HG19/GRCh37>",
"contig.65": "<ID=GL000220.1,length=161802,assembly=HG19/GRCh37>",
"contig.66": "<ID=GL000213.1,length=164239,assembly=HG19/GRCh37>",
"contig.67": "<ID=GL000211.1,length=166566,assembly=HG19/GRCh37>",
"contig.68": "<ID=GL000199.1,length=169874,assembly=HG19/GRCh37>",
"contig.69": "<ID=GL000217.1,length=172149,assembly=HG19/GRCh37>",
"contig.70": "<ID=GL000216.1,length=172294,assembly=HG19/GRCh37>",
"contig.71": "<ID=GL000215.1,length=172545,assembly=HG19/GRCh37>",
"contig.72": "<ID=GL000205.1,length=174588,assembly=HG19/GRCh37>",
"contig.73": "<ID=GL000219.1,length=179198,assembly=HG19/GRCh37>",
"contig.74": "<ID=GL000224.1,length=179693,assembly=HG19/GRCh37>",
"contig.75": "<ID=GL000223.1,length=180455,assembly=HG19/GRCh37>",
"contig.76": "<ID=GL000195.1,length=182896,assembly=HG19/GRCh37>",
"contig.77": "<ID=GL000212.1,length=186858,assembly=HG19/GRCh37>",
"contig.78": "<ID=GL000222.1,length=186861,assembly=HG19/GRCh37>",
"contig.79": "<ID=GL000200.1,length=187035,assembly=HG19/GRCh37>",
"contig.80": "<ID=GL000193.1,length=189789,assembly=HG19/GRCh37>",
"contig.81": "<ID=GL000194.1,length=191469,assembly=HG19/GRCh37>",
"contig.82": "<ID=GL000225.1,length=211173,assembly=HG19/GRCh37>",
"contig.83": "<ID=GL000192.1,length=547496,assembly=HG19/GRCh37>",
"Gwas2VCF_command": "--data /data/cromwell-executions/qc/90965463-3f62-4b82-81ac-00919edaf83c/call-vcf/inputs/268670771/upload.txt.gz --id ieu-b-111 --json /data/cromwell-executions/qc/90965463-3f62-4b82-81ac-00919edaf83c/call-vcf/inputs/268670771/ieu-b-111_data.json --ref /data/cromwell-executions/qc/90965463-3f62-4b82-81ac-00919edaf83c/call-vcf/inputs/1899004205/human_g1k_v37.fasta --dbsnp /data/cromwell-executions/qc/90965463-3f62-4b82-81ac-00919edaf83c/call-vcf/inputs/-307190728/dbsnp.v153.b37.vcf.gz --out /data/igd/ieu-b-111/ieu-b-111.vcf.gz --alias alias.txt; 1.3.0",
"file_date": "2021-03-29T16:26:51.471931",
"bcftools_viewVersion": "1.9+htslib-1.9",
"bcftools_viewCommand": "view -h /data/cromwell-executions/qc/90965463-3f62-4b82-81ac-00919edaf83c/call-report/inputs/268670771/ieu-b-111.vcf.gz; Date=Mon Mar 29 16:56:59 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/90965463-3f62-4b82-81ac-00919edaf83c/call-ldsc/inputs/268670771/ieu-b-111.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-111/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/
Beginning analysis at Mon Mar 29 16:45:19 2021
Reading summary statistics from /data/cromwell-executions/qc/90965463-3f62-4b82-81ac-00919edaf83c/call-ldsc/inputs/268670771/ieu-b-111.vcf.gz ...
Read summary statistics for 0 SNPs.
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.
Traceback (most recent call last):
File "./ldsc/ldsc.py", line 647, in <module>
sumstats.estimate_h2(args, log)
File "/ldsc/ldscore/sumstats.py", line 330, in estimate_h2
args, log, args.h2)
File "/ldsc/ldscore/sumstats.py", line 252, in _read_ld_sumstats
sumstats = _merge_and_log(ref_ld, sumstats, 'reference panel LD', log)
File "/ldsc/ldscore/sumstats.py", line 238, in _merge_and_log
raise ValueError(msg.format(N=len(sumstats), F=noun))
ValueError: After merging with reference panel LD, 0 SNPs remain.
Analysis finished at Mon Mar 29 16:46:27 2021
Total time elapsed: 1.0m:8.17s
{
"af_correlation": 0.9503,
"inflation_factor": 1.557,
"mean_EFFECT": 0,
"n": "-Inf",
"n_snps": 12321875,
"n_clumped_hits": 315,
"n_p_sig": 77040,
"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": 0,
"ldsc_nsnp_merge_regression_ld": "NA",
"ldsc_observed_scale_h2_beta": "NA",
"ldsc_observed_scale_h2_se": "NA",
"ldsc_intercept_beta": "NA",
"ldsc_intercept_se": "NA",
"ldsc_lambda_gc": "NA",
"ldsc_mean_chisq": "NA",
"ldsc_ratio": "NA"
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | TRUE |
n | TRUE |
is_snpid_non_unique | TRUE |
mean_EFFECT_nonfinite | FALSE |
mean_EFFECT_05 | FALSE |
mean_EFFECT_01 | FALSE |
mean_chisq | NA |
n_p_sig | TRUE |
miss_EFFECT | FALSE |
miss_SE | FALSE |
miss_PVAL | FALSE |
ldsc_ratio | NA |
ldsc_intercept_beta | NA |
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 | 2.280000e-05 | 1.034220e-02 | -0.2958940 | -3.509200e-03 | 1.420000e-05 | 3.551700e-03 | 4.472400e-01 | ▁▇▅▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 6.593500e-03 | 6.328200e-03 | 0.0016423 | 2.309300e-03 | 3.708000e-03 | 8.555700e-03 | 1.010560e-01 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.297040e-01 | 3.073317e-01 | 0.0000000 | 1.499999e-01 | 4.000000e-01 | 6.999999e-01 | 1.000000e+00 | ▇▅▅▅▅ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.297051e-01 | 3.073081e-01 | 0.0000000 | 1.453757e-01 | 4.036379e-01 | 6.953381e-01 | 1.000000e+00 | ▇▅▅▅▅ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 2.594005e-01 | 3.020423e-01 | 0.0009680 | 1.660000e-02 | 1.145670e-01 | 4.379180e-01 | 9.990200e-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 | -0.0019473 | 0.0029593 | 0.5099998 | 0.5105250 | 0.601037 | NA | NA |
1 | 10352 | rs1557426776 | TA | T | -0.0000272 | 0.0030471 | 0.9900000 | 0.9928687 | 0.606787 | NA | NA |
1 | 11008 | rs575272151 | C | G | 0.0037796 | 0.0050669 | 0.4600002 | 0.4556954 | 0.086187 | 0.0880591 | NA |
1 | 11012 | rs544419019 | C | G | 0.0037796 | 0.0050669 | 0.4600002 | 0.4556954 | 0.086187 | 0.0880591 | NA |
1 | 13110 | rs540538026 | G | A | 0.0043152 | 0.0067433 | 0.5199996 | 0.5222198 | 0.058642 | 0.0267572 | NA |
1 | 13116 | rs62635286 | T | G | -0.0027703 | 0.0039884 | 0.4899999 | 0.4873057 | 0.189111 | 0.0970447 | NA |
1 | 13118 | rs200579949 | A | G | -0.0027703 | 0.0039884 | 0.4899999 | 0.4873057 | 0.189111 | 0.0970447 | NA |
1 | 13273 | rs531730856 | G | C | 0.0037904 | 0.0046701 | 0.4199997 | 0.4170009 | 0.134098 | 0.0950479 | NA |
1 | 14464 | rs546169444 | A | T | -0.0076089 | 0.0042494 | 0.0729995 | 0.0733592 | 0.156971 | 0.0958466 | NA |
1 | 14599 | rs531646671 | T | A | -0.0015605 | 0.0038679 | 0.6899999 | 0.6866115 | 0.191514 | 0.1475640 | NA |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154901936 | rs697727 | A | G | 0.0100255 | 0.0019105 | 1.0e-07 | 2.00e-07 | 0.751857 | 0.643179 | NA |
23 | 154901964 | rs697726 | G | A | 0.0079996 | 0.0020146 | 7.2e-05 | 7.16e-05 | 0.347901 | 0.117616 | NA |
23 | 154902105 | rs696316 | G | T | 0.0100350 | 0.0019104 | 1.0e-07 | 1.00e-07 | 0.751813 | 0.636026 | NA |
23 | 154902889 | rs697725 | A | T | 0.0101156 | 0.0019098 | 1.0e-07 | 1.00e-07 | 0.751488 | 0.584106 | NA |
23 | 154903118 | rs479770 | G | A | 0.0099900 | 0.0019107 | 2.0e-07 | 2.00e-07 | 0.751903 | 0.643444 | NA |
23 | 154903224 | rs480725 | A | T | 0.0099900 | 0.0019107 | 2.0e-07 | 2.00e-07 | 0.751906 | 0.643444 | NA |
23 | 154903937 | rs674707 | G | A | 0.0099934 | 0.0019108 | 2.0e-07 | 2.00e-07 | 0.751916 | 0.643444 | NA |
23 | 154909055 | rs473529 | C | G | -0.0100784 | 0.0017987 | 0.0e+00 | 0.00e+00 | 0.304847 | 0.463046 | NA |
23 | 154918266 | rs642043 | C | T | -0.0103739 | 0.0018044 | 0.0e+00 | 0.00e+00 | 0.302713 | 0.478675 | NA |
23 | 154927581 | rs644138 | G | A | -0.0102565 | 0.0018047 | 0.0e+00 | 0.00e+00 | 0.302587 | 0.463576 | NA |
1 10177 rs1264289758 AC A . PASS AF=0.601037 ES:SE:LP:AF:ID -0.00194728:0.0029593:0.29243:0.601037:rs1264289758
1 10352 rs1557426776 TA T . PASS AF=0.606787 ES:SE:LP:AF:ID -2.72346e-05:0.00304709:0.00436481:0.606787:rs1557426776
1 11008 rs575272151 C G . PASS AF=0.086187 ES:SE:LP:AF:ID 0.00377965:0.00506687:0.337242:0.086187:rs575272151
1 11012 rs544419019 C G . PASS AF=0.086187 ES:SE:LP:AF:ID 0.00377965:0.00506687:0.337242:0.086187:rs544419019
1 13110 rs540538026 G A . PASS AF=0.058642 ES:SE:LP:AF:ID 0.00431521:0.00674328:0.283997:0.058642:rs540538026
1 13116 rs62635286 T G . PASS AF=0.189111 ES:SE:LP:AF:ID -0.00277031:0.00398835:0.309804:0.189111:rs62635286
1 13118 rs62028691 A G . PASS AF=0.189111 ES:SE:LP:AF:ID -0.00277031:0.00398835:0.309804:0.189111:rs62028691
1 13273 rs531730856 G C . PASS AF=0.134098 ES:SE:LP:AF:ID 0.00379041:0.00467009:0.376751:0.134098:rs531730856
1 14464 rs546169444 A T . PASS AF=0.156971 ES:SE:LP:AF:ID -0.00760893:0.0042494:1.13668:0.156971:rs546169444
1 14599 rs707680 T A . PASS AF=0.191514 ES:SE:LP:AF:ID -0.00156053:0.00386789:0.161151:0.191514:rs707680
1 14604 rs1418508701 A G . PASS AF=0.191514 ES:SE:LP:AF:ID -0.00156053:0.00386789:0.161151:0.191514:rs1418508701
1 14930 rs6682385 A G . PASS AF=0.4738 ES:SE:LP:AF:ID 0.00381103:0.0030002:0.69897:0.4738:rs6682385
1 14933 rs199856693 G A . PASS AF=0.045069 ES:SE:LP:AF:ID -0.00522327:0.0073811:0.318759:0.045069:rs199856693
1 15211 rs3982632 T G . PASS AF=0.741394 ES:SE:LP:AF:ID -0.000546592:0.0034694:0.0604807:0.741394:rs3982632
1 15820 rs1316988498 G T . PASS AF=0.275172 ES:SE:LP:AF:ID -0.00614838:0.00356083:1.07572:0.275172:rs1316988498
1 15903 rs557514207 GC G . PASS AF=0.581238 ES:SE:LP:AF:ID 0.00168706:0.0029332:0.244125:0.581238:rs557514207
1 28590 rs1344649620 T TTGG . PASS AF=0.956542 ES:SE:LP:AF:ID -0.000373797:0.00835251:0.0177288:0.956542:rs1344649620
1 30923 rs1165072081 G T . PASS AF=0.910211 ES:SE:LP:AF:ID -0.00184309:0.00554026:0.130768:0.910211:rs1165072081
1 47159 rs540662756 T C . PASS AF=0.06269 ES:SE:LP:AF:ID 0.00796615:0.0063231:0.677781:0.06269:rs540662756
1 49298 rs10399793 T C . PASS AF=0.623676 ES:SE:LP:AF:ID 0.00359585:0.00352058:0.508638:0.623676:rs10399793
1 49554 rs539322794 A G . PASS AF=0.092945 ES:SE:LP:AF:ID 0.00386689:0.00542011:0.318759:0.092945:rs539322794
1 51479 rs116400033 T A . PASS AF=0.213255 ES:SE:LP:AF:ID -0.000595866:0.00376727:0.0604807:0.213255:rs116400033
1 54490 rs141149254 G A . PASS AF=0.154425 ES:SE:LP:AF:ID -0.00117446:0.00423153:0.107905:0.154425:rs141149254
1 54676 rs2462492 C T . PASS AF=0.400318 ES:SE:LP:AF:ID -0.000303447:0.0034879:0.0315171:0.400318:rs2462492
1 54712 rs573184866 TTTTC T . PASS AF=0.414794 ES:SE:LP:AF:ID -0.00259163:0.00275799:0.455932:0.414794:rs573184866
1 54716 rs1166278911 C T . PASS AF=0.417381 ES:SE:LP:AF:ID 0.00122232:0.00318468:0.154902:0.417381:rs1166278911
1 55545 rs28396308 C T . PASS AF=0.253766 ES:SE:LP:AF:ID -0.00090465:0.00358356:0.09691:0.253766:rs28396308
1 58814 rs114420996 G A . PASS AF=0.089981 ES:SE:LP:AF:ID -0.00185202:0.00546306:0.136677:0.089981:rs114420996
1 59040 rs62637815 T C . PASS AF=0.088768 ES:SE:LP:AF:ID -0.000486278:0.00548605:0.0315171:0.088768:rs62637815
1 60351 rs62637817 A G . PASS AF=0.08097 ES:SE:LP:AF:ID -0.00149045:0.00568946:0.102373:0.08097:rs62637817
1 62777 rs3844233 A T . PASS AF=0.438231 ES:SE:LP:AF:ID 0.00338787:0.00302645:0.585027:0.438231:rs3844233
1 63268 rs28664618 T C . PASS AF=0.382139 ES:SE:LP:AF:ID -7.85908e-05:0.00325385:0.00877392:0.382139:rs28664618
1 63671 rs80011619 G A . PASS AF=0.158737 ES:SE:LP:AF:ID -0.00061307:0.00414584:0.0555173:0.158737:rs80011619
1 63735 rs61158452 C CCTA . PASS AF=0.683934 ES:SE:LP:AF:ID -0.00124622:0.00322743:0.154902:0.683934:rs61158452
1 64931 rs62639104 G A . PASS AF=0.079572 ES:SE:LP:AF:ID -0.00139094:0.005759:0.091515:0.079572:rs62639104
1 68082 rs367789441 T C . PASS AF=0.070799 ES:SE:LP:AF:ID 0.000881549:0.00583032:0.0555173:0.070799:rs367789441
1 69428 rs140739101 T G . PASS AF=0.032911 ES:SE:LP:AF:ID 0.00971332:0.00882057:0.568636:0.032911:rs140739101
1 69761 rs200505207 A T . PASS AF=0.073882 ES:SE:LP:AF:ID 0.00141819:0.005739:0.09691:0.073882:rs200505207
1 69897 rs200676709 T C . PASS AF=0.751222 ES:SE:LP:AF:ID -0.00265955:0.00365557:0.327902:0.751222:rs200676709
1 74790 rs13328700 C G . PASS AF=0.034114 ES:SE:LP:AF:ID -0.00105376:0.00837417:0.0457575:0.034114:rs13328700
1 74792 rs1335672253 G A . PASS AF=0.034114 ES:SE:LP:AF:ID -0.00105376:0.00837417:0.0457575:0.034114:rs1335672253
1 76838 rs563953605 T G . PASS AF=0.077092 ES:SE:LP:AF:ID 0.00074757:0.0058711:0.0457575:0.077092:rs563953605
1 76854 rs367666799 A G . PASS AF=0.07747 ES:SE:LP:AF:ID 0.00267589:0.00565853:0.19382:0.07747:rs367666799
1 77866 rs563593912 C T . PASS AF=0.076896 ES:SE:LP:AF:ID 0.000730166:0.00587258:0.0457575:0.076896:rs563593912
1 77874 rs62641297 G A . PASS AF=0.076896 ES:SE:LP:AF:ID 0.000730166:0.00587258:0.0457575:0.076896:rs62641297
1 81260 rs571136476 C T . PASS AF=0.041494 ES:SE:LP:AF:ID 0.0212682:0.00817859:2.03152:0.041494:rs571136476
1 81587 rs536406113 C T . PASS AF=0.06094 ES:SE:LP:AF:ID -0.000786405:0.00621538:0.0457575:0.06094:rs536406113
1 82163 rs139113303 G A . PASS AF=0.075422 ES:SE:LP:AF:ID 0.00213512:0.00573116:0.148742:0.075422:rs139113303
1 82609 rs149189449 C G . PASS AF=0.075448 ES:SE:LP:AF:ID 0.00207096:0.00573:0.142668:0.075448:rs149189449
1 83514 rs201754587 C T . PASS AF=0.352748 ES:SE:LP:AF:ID -0.00593615:0.00327775:1.1549:0.352748:rs201754587