{
"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=ukb-d-30800_irnt,TotalVariants=13556362,VariantsNotRead=0,HarmonisedVariants=13556362,VariantsNotHarmonised=0,SwitchedAlleles=229,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/ukb-d-import/processed/ukb-d-30800_irnt/ukb-d-30800_irnt_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2019-11-25T13:48:05.014820",
"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/ukb-d-import/processed/ukb-d-30800_irnt/ukb-d-30800_irnt.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-30800_irnt/ukb-d-30800_irnt_data.vcf.gz; Date=Mon Nov 25 14:39:37 2019",
"bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukb-d-30800_irnt/ukb-d-30800_irnt.vcf.gz; Date=Sun May 10 23:23:48 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/ukb-d-import/processed/ukb-d-30800_irnt/ukb-d-30800_irnt.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/ukb-d-import/processed/ukb-d-30800_irnt/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/
Beginning analysis at Mon Nov 25 15:34:00 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-30800_irnt/ukb-d-30800_irnt.vcf.gz ...
Read summary statistics for 13556362 SNPs.
Dropped 12672 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, 1283499 SNPs remain.
After merging with regression SNP LD, 1283499 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0204 (0.0092)
Lambda GC: 1.0248
Mean Chi^2: 1.028
Intercept: 1.0058 (0.0068)
Ratio: 0.2069 (0.244)
Analysis finished at Mon Nov 25 15:36:22 2019
Total time elapsed: 2.0m:21.97s
{
"af_correlation": 0.952,
"inflation_factor": 1.0202,
"mean_EFFECT": 0,
"n": 54498,
"n_snps": 13556362,
"n_clumped_hits": 1,
"n_p_sig": 11,
"n_mono": 0,
"n_ns": 1250750,
"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": 561679,
"n_est": 54527.1571,
"ratio_se_n": 1.0003,
"mean_diff": 9.5342e-06,
"ratio_diff": 5.8105,
"sd_y_est1": 0.8319,
"sd_y_est2": 0.8321,
"r2_sum1": 0.0005,
"r2_sum2": 0.0007,
"r2_sum3": 0.0007,
"r2_sum4": 0.0007,
"ldsc_nsnp_merge_refpanel_ld": 1283499,
"ldsc_nsnp_merge_regression_ld": 1283499,
"ldsc_observed_scale_h2_beta": 0.0204,
"ldsc_observed_scale_h2_se": 0.0092,
"ldsc_intercept_beta": 1.0058,
"ldsc_intercept_se": 0.0068,
"ldsc_lambda_gc": 1.0248,
"ldsc_mean_chisq": 1.028,
"ldsc_ratio": 0.2071
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | FALSE |
n | FALSE |
is_snpid_non_unique | TRUE |
mean_EFFECT_nonfinite | FALSE |
mean_EFFECT_05 | FALSE |
mean_EFFECT_01 | FALSE |
mean_chisq | 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 | numeric.mean | numeric.sd | numeric.p0 | numeric.p25 | numeric.p50 | numeric.p75 | numeric.p100 | numeric.hist |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
character | ID | 0 | 1.0000000 | 3 | 94 | 0 | 13544354 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 100 | 0 | 57020 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 342 | 0 | 33317 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.051387e+00 | 6.185053e+00 | 1.0000e+00 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.300000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.902496e+07 | 5.591648e+07 | 3.0200e+02 | 3.292666e+07 | 7.014060e+07 | 1.148561e+08 | 2.492309e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.910000e-05 | 2.919300e-02 | -3.6099e-01 | -7.779300e-03 | 2.690000e-05 | 7.887100e-03 | 3.738800e-01 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.105990e-02 | 2.027870e-02 | 4.4684e-03 | 6.022500e-03 | 1.106800e-02 | 3.024300e-02 | 1.060200e-01 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.970620e-01 | 2.894738e-01 | 0.0000e+00 | 2.457599e-01 | 4.957104e-01 | 7.480593e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.970590e-01 | 2.894756e-01 | 0.0000e+00 | 2.457514e-01 | 4.957024e-01 | 7.480632e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.911939e-01 | 2.544914e-01 | 1.0000e-03 | 7.528800e-03 | 6.054400e-02 | 2.961100e-01 | 9.990000e-01 | ▇▂▁▁▁ |
numeric | AF_reference | 561679 | 0.9585671 | NA | NA | NA | NA | NA | 1.966247e-01 | 2.471618e-01 | 0.0000e+00 | 5.790700e-03 | 8.466450e-02 | 3.087060e-01 | 1.000000e+00 | ▇▂▁▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 5.449800e+04 | 0.000000e+00 | 5.4498e+04 | 5.449800e+04 | 5.449800e+04 | 5.449800e+04 | 5.449800e+04 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 692794 | rs530212009 | CA | C | 0.0014976 | 0.0087987 | 0.8648500 | 0.8648474 | 0.1101600 | 0.1894970 | 54498 |
1 | 693731 | rs12238997 | A | G | 0.0007226 | 0.0083252 | 0.9308301 | 0.9308341 | 0.1153700 | 0.1417730 | 54498 |
1 | 707522 | rs371890604 | G | C | -0.0024317 | 0.0093668 | 0.7951700 | 0.7951659 | 0.0969370 | 0.1293930 | 54498 |
1 | 717587 | rs144155419 | G | A | 0.0192740 | 0.0222160 | 0.3856097 | 0.3856282 | 0.0158320 | 0.0045926 | 54498 |
1 | 723329 | rs189787166 | A | T | 0.0225140 | 0.0699130 | 0.7474308 | 0.7474309 | 0.0015382 | 0.0003994 | 54498 |
1 | 730087 | rs148120343 | T | C | 0.0005622 | 0.0116700 | 0.9615800 | 0.9615797 | 0.0560090 | 0.0127796 | 54498 |
1 | 731718 | rs142557973 | T | C | -0.0016100 | 0.0079000 | 0.8385200 | 0.8385118 | 0.1213900 | 0.1543530 | 54498 |
1 | 732032 | rs61770163 | A | C | -0.0024094 | 0.0084125 | 0.7745706 | 0.7745663 | 0.1210800 | 0.1555510 | 54498 |
1 | 734349 | rs141242758 | T | C | -0.0014724 | 0.0079036 | 0.8522200 | 0.8522135 | 0.1205700 | 0.1525560 | 54498 |
1 | 740284 | rs61770167 | C | T | -0.0167820 | 0.0361160 | 0.6421700 | 0.6421682 | 0.0057529 | 0.0023962 | 54498 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154923311 | rs141127553 | C | T | -0.0010303 | 0.0098561 | 0.9167500 | 0.9167454 | 0.056393 | 0.0309934 | 54498 |
23 | 154923374 | rs111332691 | T | A | 0.0019718 | 0.0109170 | 0.8566600 | 0.8566679 | 0.044424 | 0.0116556 | 54498 |
23 | 154925045 | rs509981 | C | T | -0.0029432 | 0.0052060 | 0.5718406 | 0.5718373 | 0.246130 | 0.3634440 | 54498 |
23 | 154925895 | rs538470 | C | T | -0.0030733 | 0.0053262 | 0.5639297 | 0.5639290 | 0.242350 | 0.3634440 | 54498 |
23 | 154927581 | rs644138 | G | A | -0.0028664 | 0.0049047 | 0.5589398 | 0.5589384 | 0.302980 | 0.4635760 | 54498 |
23 | 154929412 | rs557132 | C | T | -0.0029687 | 0.0052075 | 0.5686198 | 0.5686223 | 0.245980 | 0.3568210 | 54498 |
23 | 154929637 | rs35185538 | CT | C | -0.0023457 | 0.0054456 | 0.6666594 | 0.6666491 | 0.229630 | 0.3011920 | 54498 |
23 | 154929952 | rs4012982 | CAA | C | -0.0010094 | 0.0054832 | 0.8539401 | 0.8539432 | 0.240120 | 0.3165560 | 54498 |
23 | 154930230 | rs781880 | A | G | -0.0030686 | 0.0052078 | 0.5557097 | 0.5557060 | 0.246320 | 0.3618540 | 54498 |
23 | 154930487 | rs781879 | T | A | -0.0061553 | 0.0174800 | 0.7247496 | 0.7247379 | 0.020255 | 0.1263580 | 54498 |
1 692794 rs530212009 CA C . PASS AF=0.11016 ES:SE:LP:AF:SS:ID 0.0014976:0.0087987:0.0630592:0.11016:54498:1_692794_CA_C
1 693731 rs12238997 A G . PASS AF=0.11537 ES:SE:LP:AF:SS:ID 0.00072259:0.0083252:0.0311296:0.11537:54498:rs12238997
1 707522 rs371890604 G C . PASS AF=0.096937 ES:SE:LP:AF:SS:ID -0.0024317:0.0093668:0.09954:0.096937:54498:rs371890604
1 717587 rs144155419 G A . PASS AF=0.015832 ES:SE:LP:AF:SS:ID 0.019274:0.022216:0.413852:0.015832:54498:rs144155419
1 723329 rs189787166 A T . PASS AF=0.0015382 ES:SE:LP:AF:SS:ID 0.022514:0.069913:0.126429:0.0015382:54498:rs189787166
1 730087 rs148120343 T C . PASS AF=0.056009 ES:SE:LP:AF:SS:ID 0.00056216:0.01167:0.0170146:0.056009:54498:rs148120343
1 731718 rs58276399 T C . PASS AF=0.12139 ES:SE:LP:AF:SS:ID -0.00161:0.0079:0.0764866:0.12139:54498:rs58276399
1 732032 rs61770163 A C . PASS AF=0.12108 ES:SE:LP:AF:SS:ID -0.0024094:0.0084125:0.110939:0.12108:54498:rs61770163
1 734349 rs141242758 T C . PASS AF=0.12057 ES:SE:LP:AF:SS:ID -0.0014724:0.0079036:0.0694483:0.12057:54498:rs141242758
1 740284 rs61770167 C T . PASS AF=0.0057529 ES:SE:LP:AF:SS:ID -0.016782:0.036116:0.19235:0.0057529:54498:rs61770167
1 742813 rs112573343 C T . PASS AF=0.0018829 ES:SE:LP:AF:SS:ID -0.17498:0.068406:1.97757:0.0018829:54498:rs112573343
1 749963 rs529266287 T TAA . PASS AF=0.8698 ES:SE:LP:AF:SS:ID 0.0038246:0.0077699:0.205819:0.8698:54498:rs529266287
1 750230 rs190826124 G C . PASS AF=0.0016268 ES:SE:LP:AF:SS:ID 0.05008:0.068323:0.333885:0.0016268:54498:rs190826124
1 751343 rs28544273 T A . PASS AF=0.12282 ES:SE:LP:AF:SS:ID -0.0032638:0.0076984:0.172889:0.12282:54498:rs28544273
1 751488 rs200141114 G GA . PASS AF=0.14265 ES:SE:LP:AF:SS:ID -1.9021e-05:0.0076:0.000869459:0.14265:54498:rs200141114
1 751756 rs28527770 T C . PASS AF=0.12296 ES:SE:LP:AF:SS:ID -0.0034944:0.0076867:0.187488:0.12296:54498:rs28527770
1 753405 rs3115860 C A . PASS AF=0.87105 ES:SE:LP:AF:SS:ID 0.0030308:0.0075004:0.163581:0.87105:54498:rs3115860
1 753425 rs3131970 T C . PASS AF=0.87549 ES:SE:LP:AF:SS:ID 0.0043786:0.007621:0.247491:0.87549:54498:rs3131970
1 753541 rs2073813 G A . PASS AF=0.12853 ES:SE:LP:AF:SS:ID -0.0016868:0.007514:0.0849275:0.12853:54498:rs2073813
1 754105 rs12184325 C T . PASS AF=0.036001 ES:SE:LP:AF:SS:ID -0.020244:0.01371:0.854524:0.036001:54498:rs12184325
1 754182 rs3131969 A G . PASS AF=0.87066 ES:SE:LP:AF:SS:ID 0.0032121:0.0074922:0.175146:0.87066:54498:rs3131969
1 754192 rs3131968 A G . PASS AF=0.87074 ES:SE:LP:AF:SS:ID 0.0032768:0.0074952:0.179155:0.87074:54498:rs3131968
1 754334 rs3131967 T C . PASS AF=0.87066 ES:SE:LP:AF:SS:ID 0.0031625:0.0074919:0.172024:0.87066:54498:rs3131967
1 754433 rs150578204 G A . PASS AF=0.0052711 ES:SE:LP:AF:SS:ID 0.008294:0.037714:0.0830568:0.0052711:54498:rs150578204
1 754458 rs142682604 G T . PASS AF=0.0052421 ES:SE:LP:AF:SS:ID 0.0083407:0.037802:0.0833513:0.0052421:54498:rs142682604
1 755435 rs184270342 T G . PASS AF=0.0057236 ES:SE:LP:AF:SS:ID 0.0020936:0.036924:0.0200967:0.0057236:54498:rs184270342
1 755890 rs3115858 A T . PASS AF=0.87078 ES:SE:LP:AF:SS:ID 0.0023113:0.0074786:0.120744:0.87078:54498:rs3115858
1 756434 rs61768170 G C . PASS AF=0.12591 ES:SE:LP:AF:SS:ID -0.0014253:0.0076237:0.0697134:0.12591:54498:rs61768170
1 756604 rs3131962 A G . PASS AF=0.87034 ES:SE:LP:AF:SS:ID 0.0019533:0.0074613:0.100464:0.87034:54498:rs3131962
1 757640 rs3115853 G A . PASS AF=0.86967 ES:SE:LP:AF:SS:ID 0.0024576:0.007455:0.129795:0.86967:54498:rs3115853
1 757734 rs4951929 C T . PASS AF=0.87051 ES:SE:LP:AF:SS:ID 0.0022687:0.0074685:0.118444:0.87051:54498:rs4951929
1 757936 rs4951862 C A . PASS AF=0.87052 ES:SE:LP:AF:SS:ID 0.0022655:0.0074691:0.118245:0.87052:54498:rs4951862
1 758144 rs3131956 A G . PASS AF=0.87052 ES:SE:LP:AF:SS:ID 0.0022791:0.0074691:0.119038:0.87052:54498:rs3131956
1 758626 rs3131954 C T . PASS AF=0.87101 ES:SE:LP:AF:SS:ID 0.0024406:0.007488:0.128147:0.87101:54498:rs3131954
1 759293 rs10157329 T A . PASS AF=0.098766 ES:SE:LP:AF:SS:ID -0.0045695:0.0086836:0.222762:0.098766:54498:rs10157329
1 759600 rs545998451 AGT A . PASS AF=0.0066973 ES:SE:LP:AF:SS:ID -0.0077592:0.033044:0.0891836:0.0066973:54498:1_759600_AGT_A
1 759837 rs3115851 T A . PASS AF=0.87471 ES:SE:LP:AF:SS:ID 0.0031685:0.007596:0.169674:0.87471:54498:rs3115851
1 761732 rs2286139 C T . PASS AF=0.8644 ES:SE:LP:AF:SS:ID 0.0043866:0.0074549:0.25473:0.8644:54498:rs2286139
1 761752 rs1057213 C T . PASS AF=0.8696 ES:SE:LP:AF:SS:ID 0.002157:0.0075242:0.111051:0.8696:54498:rs1057213
1 762273 rs3115849 G A . PASS AF=0.86638 ES:SE:LP:AF:SS:ID 0.0018973:0.0075201:0.0964705:0.86638:54498:rs3115849
1 762485 rs12095200 C A . PASS AF=0.0988 ES:SE:LP:AF:SS:ID -0.00066222:0.0090014:0.0262489:0.0988:54498:rs12095200
1 762589 rs3115848 G C . PASS AF=0.87161 ES:SE:LP:AF:SS:ID 0.0024797:0.0076098:0.128112:0.87161:54498:rs3115848
1 762592 rs3131950 C G . PASS AF=0.8716 ES:SE:LP:AF:SS:ID 0.0024799:0.0076098:0.128124:0.8716:54498:rs3131950
1 762601 rs3131949 T C . PASS AF=0.8716 ES:SE:LP:AF:SS:ID 0.0024798:0.0076098:0.128118:0.8716:54498:rs3131949
1 762632 rs3131948 T A . PASS AF=0.87197 ES:SE:LP:AF:SS:ID 0.002168:0.0076137:0.110233:0.87197:54498:rs3131948
1 764191 rs7515915 T G . PASS AF=0.12552 ES:SE:LP:AF:SS:ID -0.0014508:0.0076147:0.0711435:0.12552:54498:rs7515915
1 766007 rs61768174 A C . PASS AF=0.10496 ES:SE:LP:AF:SS:ID -0.0041655:0.0082923:0.210821:0.10496:54498:rs61768174
1 766105 rs2519015 T A . PASS AF=0.85549 ES:SE:LP:AF:SS:ID 0.0031949:0.0074481:0.17525:0.85549:54498:rs2519015
1 767393 rs538667473 A C . PASS AF=0.0014459 ES:SE:LP:AF:SS:ID 0.037404:0.070813:0.223764:0.0014459:54498:rs538667473
1 768116 rs376645387 A AGTTTT . PASS AF=0.83798 ES:SE:LP:AF:SS:ID -0.014938:0.0073253:1.3827:0.83798:54498:rs376645387