{
"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=ubm-a-2647,TotalVariants=11734353,VariantsNotRead=0,HarmonisedVariants=11734353,VariantsNotHarmonised=0,SwitchedAlleles=0,TotalControls=7916.0,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>",
"gwas_harmonisation_command": "--json /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ubm-a-import/processed/ubm-a-2647/ubm-a-2647_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2020-02-08T03:42:07.426719",
"bcftools_annotateVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_annotateCommand": "annotate -a /mnt/storage/home/gh13047/mr-eve/vcf-reference-datasets/dbsnp/dbsnp.v153.b37.vcf.gz -c ID -o /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ubm-a-import/processed/ubm-a-2647/ubm-a-2647.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ubm-a-import/processed/ubm-a-2647/ubm-a-2647_data.vcf.gz; Date=Sat Feb 8 04:02:15 2020",
"bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ubm-a-2647/ubm-a-2647.vcf.gz; Date=Sat May 9 20:07:46 2020"
}
*********************************************************************
* 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 /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ubm-a-import/processed/ubm-a-2647/ubm-a-2647.vcf.gz \
--ref-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ \
--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ubm-a-import/processed/ubm-a-2647/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/
Beginning analysis at Sat Feb 8 04:34:36 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ubm-a-import/processed/ubm-a-2647/ubm-a-2647.vcf.gz ...
Read summary statistics for 11734353 SNPs.
Dropped 14445 SNPs with duplicated rs numbers.
Reading reference panel LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/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 /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1288946 SNPs remain.
After merging with regression SNP LD, 1288946 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0726 (0.0524)
Lambda GC: 1.0042
Mean Chi^2: 1.0094
Intercept: 0.998 (0.0061)
Ratio < 0 (usually indicates GC correction).
Analysis finished at Sat Feb 8 04:36:19 2020
Total time elapsed: 1.0m:42.57s
{
"af_correlation": 0.9541,
"inflation_factor": 0.9945,
"mean_EFFECT": 0.0002,
"n": "-Inf",
"n_snps": 11734353,
"n_clumped_hits": 0,
"n_p_sig": 0,
"n_mono": 0,
"n_ns": 0,
"n_mac": 0,
"is_snpid_unique": true,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 0,
"n_miss_AF_reference": 433877,
"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": 1288946,
"ldsc_nsnp_merge_regression_ld": 1288946,
"ldsc_observed_scale_h2_beta": 0.0726,
"ldsc_observed_scale_h2_se": 0.0524,
"ldsc_intercept_beta": 0.998,
"ldsc_intercept_se": 0.0061,
"ldsc_lambda_gc": 1.0042,
"ldsc_mean_chisq": 1.0094,
"ldsc_ratio": -0.2128
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | FALSE |
n | TRUE |
is_snpid_non_unique | FALSE |
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 | 0 | 1.0000000 | 3 | 64 | 0 | 11719943 | 0 | NA | NA | 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 | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
logical | N | 11734353 | 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 | 8.650690e+00 | 5.767834e+00 | 1.0000000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.200000e+01 | ▇▅▃▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 7.882237e+07 | 5.627455e+07 | 173.0000000 | 3.258219e+07 | 6.943117e+07 | 1.145037e+08 | 2.492385e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 1.935000e-04 | 1.581961e-01 | -2.7986000 | -4.070000e-02 | 1.000000e-04 | 4.120000e-02 | 2.553600e+00 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 1.147412e-01 | 1.085538e-01 | 0.0228000 | 2.970000e-02 | 6.290000e-02 | 1.753000e-01 | 1.437500e+00 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.989257e-01 | 2.892809e-01 | 0.0000001 | 2.454709e-01 | 5.011872e-01 | 7.413102e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.988737e-01 | 2.892226e-01 | 0.0000001 | 2.478630e-01 | 4.987419e-01 | 7.494938e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 1.704462e-01 | 2.461625e-01 | 0.0010000 | 5.052400e-03 | 3.933600e-02 | 2.479800e-01 | 9.990000e-01 | ▇▁▁▁▁ |
numeric | AF_reference | 433877 | 0.9630251 | NA | NA | NA | NA | NA | NA | NA | 1.762844e-01 | 2.405031e-01 | 0.0000000 | 3.394600e-03 | 5.890580e-02 | 2.647760e-01 | 1.000000e+00 | ▇▂▁▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 54676 | rs2462492 | C | T | -0.0560 | 0.0411 | 0.1737801 | 0.1730306 | 0.3996650 | NA | NA |
1 | 55326 | rs3107975 | T | C | -0.1911 | 0.2093 | 0.3630781 | 0.3612197 | 0.0089751 | 0.0459265 | NA |
1 | 57033 | rs2691311 | T | C | -0.4976 | 0.4830 | 0.3019952 | 0.3029031 | 0.0018298 | NA | NA |
1 | 86028 | rs114608975 | T | C | 0.0204 | 0.0658 | 0.7585776 | 0.7565378 | 0.1044800 | 0.0277556 | NA |
1 | 91536 | rs6702460 | G | T | -0.0273 | 0.0402 | 0.5011872 | 0.4970717 | 0.4542200 | 0.4207270 | NA |
1 | 234313 | rs8179466 | C | T | -0.1574 | 0.0803 | 0.0501187 | 0.0499783 | 0.0749740 | NA | NA |
1 | 526736 | rs28863004 | C | G | 0.0700 | 0.2864 | 0.8128311 | 0.8069107 | 0.0058798 | 0.1317890 | NA |
1 | 533198 | rs78497331 | C | T | 0.8785 | 0.7099 | 0.2137962 | 0.2159022 | 0.0010150 | 0.0814696 | NA |
1 | 534192 | rs6680723 | C | T | -0.0094 | 0.0467 | 0.8317640 | 0.8404759 | 0.2387500 | NA | NA |
1 | 534583 | rs6683466 | C | G | 0.1740 | 0.2416 | 0.4677351 | 0.4714027 | 0.0068656 | NA | NA |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 51221731 | rs115055839 | T | C | -0.0037 | 0.0439 | 0.9332541 | 0.9328319 | 0.0764300 | 0.0625000 | NA |
22 | 51222100 | rs114553188 | G | T | 0.0706 | 0.0528 | 0.1819701 | 0.1811831 | 0.0538360 | 0.0880591 | NA |
22 | 51226692 | rs150189434 | G | A | 0.0490 | 0.2759 | 0.8511380 | 0.8590367 | 0.0020807 | 0.0155751 | NA |
22 | 51227766 | rs186062720 | T | C | -0.2355 | 0.3166 | 0.4570882 | 0.4569728 | 0.0021656 | 0.0005990 | NA |
22 | 51229805 | rs9616985 | T | C | -0.0041 | 0.0440 | 0.9332541 | 0.9257591 | 0.0763670 | 0.0730831 | NA |
22 | 51230673 | rs555680442 | G | C | 0.4213 | 0.2679 | 0.1148151 | 0.1158111 | 0.0027488 | 0.0017971 | NA |
22 | 51231424 | rs539541647 | A | G | 0.0469 | 0.3856 | 0.9120110 | 0.9031931 | 0.0011219 | 0.0011981 | NA |
22 | 51232488 | rs376461333 | A | G | 0.1284 | 0.1075 | 0.2344229 | 0.2323143 | 0.0194930 | NA | NA |
22 | 51237063 | rs3896457 | T | C | 0.0143 | 0.0277 | 0.6025596 | 0.6056830 | 0.2945100 | 0.2050720 | NA |
22 | 51239586 | rs535432390 | T | G | 0.3805 | 0.2671 | 0.1548820 | 0.1542844 | 0.0025620 | 0.0001997 | NA |
1 54676 rs2462492 C T . PASS AF=0.399665 ES:SE:LP:AF:ID -0.056:0.0411:0.76:0.399665:rs2462492
1 55326 rs3107975 T C . PASS AF=0.0089751 ES:SE:LP:AF:ID -0.1911:0.2093:0.44:0.0089751:rs3107975
1 57033 rs2691311 T C . PASS AF=0.0018298 ES:SE:LP:AF:ID -0.4976:0.483:0.52:0.0018298:rs74447903
1 86028 rs114608975 T C . PASS AF=0.10448 ES:SE:LP:AF:ID 0.0204:0.0658:0.12:0.10448:rs114608975
1 91536 rs6702460 G T . PASS AF=0.45422 ES:SE:LP:AF:ID -0.0273:0.0402:0.3:0.45422:rs6702460
1 234313 rs8179466 C T . PASS AF=0.074974 ES:SE:LP:AF:ID -0.1574:0.0803:1.3:0.074974:rs8179466
1 526736 rs28863004 C G . PASS AF=0.0058798 ES:SE:LP:AF:ID 0.07:0.2864:0.0899997:0.0058798:rs28863004
1 533198 rs78497331 C T . PASS AF=0.001015 ES:SE:LP:AF:ID 0.8785:0.7099:0.67:0.001015:rs78497331
1 534192 rs6680723 C T . PASS AF=0.23875 ES:SE:LP:AF:ID -0.0094:0.0467:0.0799999:0.23875:rs6680723
1 534583 rs6683466 C G . PASS AF=0.0068656 ES:SE:LP:AF:ID 0.174:0.2416:0.33:0.0068656:rs6683466
1 544584 rs576404767 C T . PASS AF=0.0016212 ES:SE:LP:AF:ID 0.2234:0.408:0.23:0.0016212:rs576404767
1 546697 rs12025928 A G . PASS AF=0.91442 ES:SE:LP:AF:ID -0.0083:0.0583:0.05:0.91442:rs12025928
1 564862 rs1988726 T C . PASS AF=0.0012083 ES:SE:LP:AF:ID 0.4326:0.5767:0.34:0.0012083:rs1988726
1 565111 rs573042692 T C . PASS AF=0.0015048 ES:SE:LP:AF:ID -0.1228:0.5043:0.0899997:0.0015048:rs573042692
1 565130 rs371431021 G A . PASS AF=0.0043852 ES:SE:LP:AF:ID -0.0901:0.3092:0.11:0.0043852:rs371431021
1 565196 rs538567606 T C . PASS AF=0.0021264 ES:SE:LP:AF:ID -0.353:0.4421:0.369999:0.0021264:rs538567606
1 565469 rs554127336 C T . PASS AF=0.0016408 ES:SE:LP:AF:ID -0.423:0.4681:0.44:0.0016408:rs554127336
1 565490 rs7349153 T C . PASS AF=0.001359 ES:SE:LP:AF:ID 0.5708:0.5423:0.53:0.001359:rs7349153
1 566024 rs6421779 G A . PASS AF=0.0012223 ES:SE:LP:AF:ID 0.4585:0.5487:0.39:0.0012223:rs6421779
1 566792 rs9283152 T C . PASS AF=0.002176 ES:SE:LP:AF:ID 0.4629:0.4512:0.52:0.002176:rs9283152
1 566933 rs113120793 A G . PASS AF=0.0012255 ES:SE:LP:AF:ID 0.4296:0.5763:0.34:0.0012255:rs113120793
1 566960 rs2185540 T C . PASS AF=0.0013642 ES:SE:LP:AF:ID 0.5802:0.5468:0.54:0.0013642:rs2185540
1 567006 rs565235853 G T . PASS AF=0.002852 ES:SE:LP:AF:ID -0.3353:0.2664:0.679999:0.002852:rs565235853
1 567092 rs9326622 T C . PASS AF=0.0013225 ES:SE:LP:AF:ID 0.6034:0.5477:0.570001:0.0013225:rs9326622
1 567119 rs9283153 A C . PASS AF=0.0014721 ES:SE:LP:AF:ID 0.4098:0.5275:0.36:0.0014721:rs9283153
1 567867 rs2000096 A G . PASS AF=0.0028155 ES:SE:LP:AF:ID 0.6721:0.3972:1.04:0.0028155:rs2000096
1 568072 rs2853820 A G . PASS AF=0.0014994 ES:SE:LP:AF:ID -0.1505:0.5042:0.12:0.0014994:rs2853820
1 568463 rs2153587 A G . PASS AF=0.0011247 ES:SE:LP:AF:ID 0.5313:0.5856:0.44:0.0011247:rs2153587
1 568800 rs375217967 G A . PASS AF=0.016753 ES:SE:LP:AF:ID 0.166:0.1606:0.52:0.016753:rs375217967
1 569004 rs9285835 T C . PASS AF=0.015599 ES:SE:LP:AF:ID -0.1462:0.1511:0.48:0.015599:rs9285835
1 569543 rs538153094 G A . PASS AF=0.0015978 ES:SE:LP:AF:ID 0.155:0.552:0.11:0.0015978:rs538153094
1 569604 rs9645429 G A . PASS AF=0.001787 ES:SE:LP:AF:ID -0.3273:0.4537:0.33:0.001787:rs9645429
1 601550 rs2491328 G A . PASS AF=0.0035313 ES:SE:LP:AF:ID -0.2409:0.339:0.32:0.0035313:rs78266750
1 693731 rs12238997 A G . PASS AF=0.12069 ES:SE:LP:AF:ID -0.0269:0.0384:0.31:0.12069:rs12238997
1 705882 rs72631875 G A . PASS AF=0.064537 ES:SE:LP:AF:ID 0.0516:0.0582:0.43:0.064537:rs72631875
1 705942 rs544671234 A T . PASS AF=0.0034158 ES:SE:LP:AF:ID -0.2546:0.2567:0.49:0.0034158:rs544671234
1 713092 rs4565649 G A . PASS AF=0.0019147 ES:SE:LP:AF:ID -0.0927:0.3246:0.11:0.0019147:rs4565649
1 714277 rs138660747 C A . PASS AF=0.0072919 ES:SE:LP:AF:ID 0.1381:0.1879:0.34:0.0072919:rs138660747
1 714596 rs149887893 T C . PASS AF=0.028642 ES:SE:LP:AF:ID 0.0789:0.0776:0.509999:0.028642:rs149887893
1 715205 rs141090730 C G . PASS AF=0.0018524 ES:SE:LP:AF:ID -0.1206:0.3348:0.14:0.0018524:rs141090730
1 715265 rs12184267 C T . PASS AF=0.03198 ES:SE:LP:AF:ID 0.0784:0.0702:0.58:0.03198:rs12184267
1 715367 rs12184277 A G . PASS AF=0.032112 ES:SE:LP:AF:ID 0.0792:0.0699:0.589999:0.032112:rs12184277
1 717474 rs141784362 C T . PASS AF=0.0016827 ES:SE:LP:AF:ID -0.1923:0.3543:0.23:0.0016827:rs141784362
1 717485 rs12184279 C A . PASS AF=0.031853 ES:SE:LP:AF:ID 0.0838:0.0704:0.63:0.031853:rs12184279
1 717587 rs144155419 G A . PASS AF=0.01666 ES:SE:LP:AF:ID 0.1442:0.1009:0.82:0.01666:rs144155419
1 718336 rs188996809 T C . PASS AF=0.0018748 ES:SE:LP:AF:ID 0.1456:0.3967:0.15:0.0018748:rs188996809
1 720381 rs116801199 G T . PASS AF=0.032321 ES:SE:LP:AF:ID 0.0835:0.0696:0.64:0.032321:rs116801199
1 720583 rs551231909 G A . PASS AF=0.001407 ES:SE:LP:AF:ID -0.2081:0.4078:0.21:0.001407:rs551231909
1 720984 rs564367954 T G . PASS AF=0.0016131 ES:SE:LP:AF:ID -0.0042:0.3682:-0:0.0016131:rs564367954
1 721290 rs12565286 G C . PASS AF=0.032465 ES:SE:LP:AF:ID 0.0833:0.0693:0.64:0.032465:rs12565286