{
"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-30500_irnt,TotalVariants=13571116,VariantsNotRead=0,HarmonisedVariants=13571116,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-30500_irnt/ukb-d-30500_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": "2019-11-25T13:11:41.881233",
"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-30500_irnt/ukb-d-30500_irnt.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-30500_irnt/ukb-d-30500_irnt_data.vcf.gz; Date=Mon Nov 25 14:13:49 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-30500_irnt/ukb-d-30500_irnt.vcf.gz; Date=Sun May 10 23:16:11 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-30500_irnt/ukb-d-30500_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-30500_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 14:53:26 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-30500_irnt/ukb-d-30500_irnt.vcf.gz ...
Read summary statistics for 13571116 SNPs.
Dropped 12696 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: 0.0322 (0.0051)
Lambda GC: 1.0658
Mean Chi^2: 1.0758
Intercept: 1.0054 (0.0074)
Ratio: 0.0709 (0.0983)
Analysis finished at Mon Nov 25 14:56:15 2019
Total time elapsed: 2.0m:49.06s
{
"af_correlation": 0.9521,
"inflation_factor": 1.0436,
"mean_EFFECT": -0,
"n": 108706,
"n_snps": 13571116,
"n_clumped_hits": 5,
"n_p_sig": 61,
"n_mono": 0,
"n_ns": 1251335,
"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": 565532,
"n_est": 109256.518,
"ratio_se_n": 1.0025,
"mean_diff": 1.9684e-06,
"ratio_diff": 1.0091,
"sd_y_est1": 0.9985,
"sd_y_est2": 1.001,
"r2_sum1": 0.0026,
"r2_sum2": 0.0026,
"r2_sum3": 0.0026,
"r2_sum4": 0.0026,
"ldsc_nsnp_merge_refpanel_ld": 1283499,
"ldsc_nsnp_merge_regression_ld": 1283499,
"ldsc_observed_scale_h2_beta": 0.0322,
"ldsc_observed_scale_h2_se": 0.0051,
"ldsc_intercept_beta": 1.0054,
"ldsc_intercept_se": 0.0074,
"ldsc_lambda_gc": 1.0658,
"ldsc_mean_chisq": 1.0758,
"ldsc_ratio": 0.0712
}
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 | 13559084 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 100 | 0 | 57064 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 342 | 0 | 33329 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.051335e+00 | 6.184827e+00 | 1.00000e+00 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.300000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.902533e+07 | 5.591519e+07 | 3.02000e+02 | 3.292863e+07 | 7.014106e+07 | 1.148611e+08 | 2.492309e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | -1.760000e-05 | 2.498360e-02 | -3.24294e-01 | -6.765400e-03 | 2.640000e-05 | 6.792700e-03 | 4.498730e-01 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.794070e-02 | 1.729700e-02 | 3.45260e-03 | 5.121600e-03 | 9.422500e-03 | 2.576260e-02 | 8.891760e-02 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.931605e-01 | 2.908426e-01 | 0.00000e+00 | 2.391603e-01 | 4.908005e-01 | 7.454525e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.931590e-01 | 2.908434e-01 | 0.00000e+00 | 2.391574e-01 | 4.907983e-01 | 7.454526e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.910040e-01 | 2.544515e-01 | 1.00000e-03 | 7.481700e-03 | 6.024510e-02 | 2.957420e-01 | 9.990000e-01 | ▇▂▁▁▁ |
numeric | AF_reference | 565532 | 0.9583283 | NA | NA | NA | NA | NA | 1.964835e-01 | 2.471353e-01 | 0.00000e+00 | 5.790700e-03 | 8.446490e-02 | 3.085060e-01 | 1.000000e+00 | ▇▂▁▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.087060e+05 | 0.000000e+00 | 1.08706e+05 | 1.087060e+05 | 1.087060e+05 | 1.087060e+05 | 1.087060e+05 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 692794 | rs530212009 | CA | C | 0.0033104 | 0.0075470 | 0.6609247 | 0.6609235 | 0.1098300 | 0.1894970 | 108706 |
1 | 693731 | rs12238997 | A | G | 0.0020452 | 0.0071163 | 0.7738076 | 0.7738064 | 0.1151960 | 0.1417730 | 108706 |
1 | 707522 | rs371890604 | G | C | -0.0002792 | 0.0080060 | 0.9721800 | 0.9721804 | 0.0970262 | 0.1293930 | 108706 |
1 | 717587 | rs144155419 | G | A | -0.0037162 | 0.0191630 | 0.8462350 | 0.8462348 | 0.0155164 | 0.0045926 | 108706 |
1 | 723329 | rs189787166 | A | T | -0.0770840 | 0.0569453 | 0.1758511 | 0.1758481 | 0.0016846 | 0.0003994 | 108706 |
1 | 730087 | rs148120343 | T | C | -0.0012090 | 0.0099258 | 0.9030510 | 0.9030507 | 0.0561206 | 0.0127796 | 108706 |
1 | 731718 | rs142557973 | T | C | -0.0026327 | 0.0067504 | 0.6965351 | 0.6965344 | 0.1211770 | 0.1543530 | 108706 |
1 | 732032 | rs61770163 | A | C | 0.0021541 | 0.0072021 | 0.7648724 | 0.7648730 | 0.1208790 | 0.1555510 | 108706 |
1 | 734349 | rs141242758 | T | C | -0.0024737 | 0.0067534 | 0.7141460 | 0.7141452 | 0.1204320 | 0.1525560 | 108706 |
1 | 740284 | rs61770167 | C | T | 0.0260221 | 0.0310025 | 0.4012731 | 0.4012702 | 0.0057180 | 0.0023962 | 108706 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154923311 | rs141127553 | C | T | 0.0025134 | 0.0075475 | 0.7391252 | 0.7391250 | 0.0570625 | 0.0309934 | 108706 |
23 | 154923374 | rs111332691 | T | A | 0.0063998 | 0.0083231 | 0.4419417 | 0.4419401 | 0.0452321 | 0.0116556 | 108706 |
23 | 154925045 | rs509981 | C | T | -0.0041096 | 0.0040546 | 0.3107921 | 0.3107893 | 0.2408370 | 0.3634440 | 108706 |
23 | 154925895 | rs538470 | C | T | -0.0038631 | 0.0041469 | 0.3515734 | 0.3515706 | 0.2375210 | 0.3634440 | 108706 |
23 | 154927581 | rs644138 | G | A | -0.0029417 | 0.0037997 | 0.4388277 | 0.4388263 | 0.2982470 | 0.4635760 | 108706 |
23 | 154929412 | rs557132 | C | T | -0.0041272 | 0.0040557 | 0.3088553 | 0.3088517 | 0.2407170 | 0.3568210 | 108706 |
23 | 154929637 | rs35185538 | CT | C | -0.0035087 | 0.0042315 | 0.4069959 | 0.4069939 | 0.2256290 | 0.3011920 | 108706 |
23 | 154929952 | rs4012982 | CAA | C | -0.0036008 | 0.0042659 | 0.3986328 | 0.3986305 | 0.2347650 | 0.3165560 | 108706 |
23 | 154930230 | rs781880 | A | G | -0.0038756 | 0.0040550 | 0.3391939 | 0.3391917 | 0.2411790 | 0.3618540 | 108706 |
23 | 154930487 | rs781879 | T | A | -0.0014342 | 0.0139443 | 0.9180791 | 0.9180787 | 0.0192303 | 0.1263580 | 108706 |
1 692794 rs530212009 CA C . PASS AF=0.10983 ES:SE:LP:AF:SS:ID 0.0033104:0.00754699:0.179848:0.10983:108706:1_692794_CA_C
1 693731 rs12238997 A G . PASS AF=0.115196 ES:SE:LP:AF:SS:ID 0.00204521:0.00711626:0.111367:0.115196:108706:rs12238997
1 707522 rs371890604 G C . PASS AF=0.0970262 ES:SE:LP:AF:SS:ID -0.000279198:0.00800596:0.0122533:0.0970262:108706:rs371890604
1 717587 rs144155419 G A . PASS AF=0.0155164 ES:SE:LP:AF:SS:ID -0.00371618:0.019163:0.072509:0.0155164:108706:rs144155419
1 723329 rs189787166 A T . PASS AF=0.00168461 ES:SE:LP:AF:SS:ID -0.077084:0.0569453:0.754855:0.00168461:108706:rs189787166
1 730087 rs148120343 T C . PASS AF=0.0561206 ES:SE:LP:AF:SS:ID -0.00120904:0.00992575:0.0442877:0.0561206:108706:rs148120343
1 731718 rs58276399 T C . PASS AF=0.121177 ES:SE:LP:AF:SS:ID -0.00263266:0.00675036:0.157057:0.121177:108706:rs58276399
1 732032 rs61770163 A C . PASS AF=0.120879 ES:SE:LP:AF:SS:ID 0.00215407:0.00720213:0.116411:0.120879:108706:rs61770163
1 734349 rs141242758 T C . PASS AF=0.120432 ES:SE:LP:AF:SS:ID -0.00247372:0.00675336:0.146213:0.120432:108706:rs141242758
1 740284 rs61770167 C T . PASS AF=0.00571801 ES:SE:LP:AF:SS:ID 0.0260221:0.0310025:0.39656:0.00571801:108706:rs61770167
1 742813 rs112573343 C T . PASS AF=0.00186585 ES:SE:LP:AF:SS:ID -0.0740646:0.0581413:0.693121:0.00186585:108706:rs112573343
1 749963 rs529266287 T TAA . PASS AF=0.870325 ES:SE:LP:AF:SS:ID 0.00301211:0.0066591:0.186397:0.870325:108706:rs529266287
1 750230 rs190826124 G C . PASS AF=0.00156423 ES:SE:LP:AF:SS:ID -0.00422143:0.0591268:0.0254501:0.00156423:108706:rs190826124
1 751343 rs28544273 T A . PASS AF=0.122336 ES:SE:LP:AF:SS:ID -0.00215221:0.00659436:0.128343:0.122336:108706:rs28544273
1 751488 rs200141114 G GA . PASS AF=0.142191 ES:SE:LP:AF:SS:ID -0.00390987:0.00651885:0.260701:0.142191:108706:rs200141114
1 751756 rs28527770 T C . PASS AF=0.122437 ES:SE:LP:AF:SS:ID -0.00228864:0.00658598:0.13774:0.122437:108706:rs28527770
1 753405 rs3115860 C A . PASS AF=0.871453 ES:SE:LP:AF:SS:ID 0.0021151:0.00641858:0.129738:0.871453:108706:rs3115860
1 753425 rs3131970 T C . PASS AF=0.875937 ES:SE:LP:AF:SS:ID 0.00240199:0.00652295:0.147094:0.875937:108706:rs3131970
1 753541 rs2073813 G A . PASS AF=0.128045 ES:SE:LP:AF:SS:ID -0.00243111:0.00643462:0.151462:0.128045:108706:rs2073813
1 754105 rs12184325 C T . PASS AF=0.0359226 ES:SE:LP:AF:SS:ID -0.00212338:0.0116899:0.0675952:0.0359226:108706:rs12184325
1 754182 rs3131969 A G . PASS AF=0.871076 ES:SE:LP:AF:SS:ID 0.00244696:0.0064126:0.153187:0.871076:108706:rs3131969
1 754192 rs3131968 A G . PASS AF=0.871187 ES:SE:LP:AF:SS:ID 0.00213025:0.00641506:0.130864:0.871187:108706:rs3131968
1 754334 rs3131967 T C . PASS AF=0.871066 ES:SE:LP:AF:SS:ID 0.00246687:0.00641215:0.154625:0.871066:108706:rs3131967
1 754433 rs150578204 G A . PASS AF=0.00494457 ES:SE:LP:AF:SS:ID -0.0127437:0.0331437:0.154524:0.00494457:108706:rs150578204
1 754458 rs142682604 G T . PASS AF=0.00490346 ES:SE:LP:AF:SS:ID -0.0122726:0.0332523:0.147475:0.00490346:108706:rs142682604
1 755435 rs184270342 T G . PASS AF=0.00569339 ES:SE:LP:AF:SS:ID 0.0336243:0.0314136:0.545986:0.00569339:108706:rs184270342
1 755890 rs3115858 A T . PASS AF=0.87102 ES:SE:LP:AF:SS:ID 0.00173102:0.00639733:0.104184:0.87102:108706:rs3115858
1 756434 rs61768170 G C . PASS AF=0.125537 ES:SE:LP:AF:SS:ID -0.00143996:0.00652865:0.0833166:0.125537:108706:rs61768170
1 756604 rs3131962 A G . PASS AF=0.870555 ES:SE:LP:AF:SS:ID 0.000979738:0.00638256:0.0565045:0.870555:108706:rs3131962
1 757640 rs3115853 G A . PASS AF=0.869872 ES:SE:LP:AF:SS:ID 0.00233562:0.00637614:0.146218:0.869872:108706:rs3115853
1 757734 rs4951929 C T . PASS AF=0.870729 ES:SE:LP:AF:SS:ID 0.00131475:0.00638722:0.0773181:0.870729:108706:rs4951929
1 757936 rs4951862 C A . PASS AF=0.870736 ES:SE:LP:AF:SS:ID 0.00132954:0.00638775:0.0782506:0.870736:108706:rs4951862
1 758144 rs3131956 A G . PASS AF=0.87074 ES:SE:LP:AF:SS:ID 0.00132242:0.00638781:0.0777979:0.87074:108706:rs3131956
1 758626 rs3131954 C T . PASS AF=0.871221 ES:SE:LP:AF:SS:ID 0.00165699:0.00640464:0.0991666:0.871221:108706:rs3131954
1 759293 rs10157329 T A . PASS AF=0.0985354 ES:SE:LP:AF:SS:ID -0.00269146:0.00743836:0.144193:0.0985354:108706:rs10157329
1 759600 rs545998451 AGT A . PASS AF=0.00664905 ES:SE:LP:AF:SS:ID 0.00990406:0.028321:0.138729:0.00664905:108706:1_759600_AGT_A
1 759837 rs3115851 T A . PASS AF=0.875214 ES:SE:LP:AF:SS:ID 0.00130286:0.00650172:0.0751116:0.875214:108706:rs3115851
1 761732 rs2286139 C T . PASS AF=0.864496 ES:SE:LP:AF:SS:ID 0.00145183:0.00637518:0.0862629:0.864496:108706:rs2286139
1 761752 rs1057213 C T . PASS AF=0.869919 ES:SE:LP:AF:SS:ID 0.00133851:0.00643826:0.0781534:0.869919:108706:rs1057213
1 762273 rs3115849 G A . PASS AF=0.866861 ES:SE:LP:AF:SS:ID 0.00288091:0.00643747:0.184091:0.866861:108706:rs3115849
1 762485 rs12095200 C A . PASS AF=0.0981944 ES:SE:LP:AF:SS:ID 0.00155469:0.00771154:0.0756039:0.0981944:108706:rs12095200
1 762589 rs3115848 G C . PASS AF=0.872175 ES:SE:LP:AF:SS:ID 0.00262691:0.00651476:0.16318:0.872175:108706:rs3115848
1 762592 rs3131950 C G . PASS AF=0.872175 ES:SE:LP:AF:SS:ID 0.00262782:0.00651476:0.163245:0.872175:108706:rs3131950
1 762601 rs3131949 T C . PASS AF=0.872173 ES:SE:LP:AF:SS:ID 0.00262802:0.00651478:0.163258:0.872173:108706:rs3131949
1 762632 rs3131948 T A . PASS AF=0.872573 ES:SE:LP:AF:SS:ID 0.00268688:0.00652:0.16732:0.872573:108706:rs3131948
1 764191 rs7515915 T G . PASS AF=0.125071 ES:SE:LP:AF:SS:ID -0.00191886:0.00651982:0.114345:0.125071:108706:rs7515915
1 766007 rs61768174 A C . PASS AF=0.105296 ES:SE:LP:AF:SS:ID -0.00207538:0.00709565:0.113557:0.105296:108706:rs61768174
1 766105 rs2519015 T A . PASS AF=0.855952 ES:SE:LP:AF:SS:ID 0.00264833:0.00637214:0.168966:0.855952:108706:rs2519015
1 767393 rs538667473 A C . PASS AF=0.00162381 ES:SE:LP:AF:SS:ID -0.0842482:0.0568057:0.859957:0.00162381:108706:rs538667473
1 768116 rs376645387 A AGTTTT . PASS AF=0.838089 ES:SE:LP:AF:SS:ID -0.0103975:0.0062386:1.0196:0.838089:108706:rs376645387