{
"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-22616_1,TotalVariants=12558072,VariantsNotRead=0,HarmonisedVariants=12558072,VariantsNotHarmonised=0,SwitchedAlleles=228,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-22616_1/ukb-d-22616_1_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2019-11-25T15:13:10.762488",
"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-22616_1/ukb-d-22616_1.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-22616_1/ukb-d-22616_1_data.vcf.gz; Date=Mon Nov 25 15:38:32 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-22616_1/ukb-d-22616_1.vcf.gz; Date=Sun May 10 13:58:36 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-22616_1/ukb-d-22616_1.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-22616_1/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 16:34:31 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-22616_1/ukb-d-22616_1.vcf.gz ...
Read summary statistics for 12558072 SNPs.
Dropped 11229 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, 1283267 SNPs remain.
After merging with regression SNP LD, 1283267 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0302 (0.0053)
Lambda GC: 1.0558
Mean Chi^2: 1.0616
Intercept: 1.0076 (0.0063)
Ratio: 0.1231 (0.1025)
Analysis finished at Mon Nov 25 16:36:22 2019
Total time elapsed: 1.0m:50.29s
{
"af_correlation": 0.9503,
"inflation_factor": 1.0375,
"mean_EFFECT": 1.8607e-06,
"n": 91149,
"n_snps": 12558072,
"n_clumped_hits": 2,
"n_p_sig": 7,
"n_mono": 0,
"n_ns": 1209346,
"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": 353119,
"n_est": 91433.1487,
"ratio_se_n": 1.0016,
"mean_diff": 4.6795e-06,
"ratio_diff": 8.3807,
"sd_y_est1": 0.2617,
"sd_y_est2": 0.2621,
"r2_sum1": 0.0001,
"r2_sum2": 0.0008,
"r2_sum3": 0.0008,
"r2_sum4": 0.0007,
"ldsc_nsnp_merge_refpanel_ld": 1283267,
"ldsc_nsnp_merge_regression_ld": 1283267,
"ldsc_observed_scale_h2_beta": 0.0302,
"ldsc_observed_scale_h2_se": 0.0053,
"ldsc_intercept_beta": 1.0076,
"ldsc_intercept_se": 0.0063,
"ldsc_lambda_gc": 1.0558,
"ldsc_mean_chisq": 1.0616,
"ldsc_ratio": 0.1234
}
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 | 12547480 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 100 | 0 | 54747 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 342 | 0 | 32612 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.061509e+00 | 6.184957e+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 | 7.895316e+07 | 5.596275e+07 | 3.02000e+02 | 3.278402e+07 | 7.000412e+07 | 1.148172e+08 | 2.492309e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.900000e-06 | 5.544500e-03 | -5.87358e-02 | -1.774600e-03 | -1.420000e-05 | 1.731100e-03 | 7.057500e-02 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.154800e-03 | 3.650500e-03 | 1.01270e-03 | 1.428600e-03 | 2.384100e-03 | 5.825800e-03 | 2.057270e-02 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.937821e-01 | 2.904314e-01 | 0.00000e+00 | 2.408269e-01 | 4.920803e-01 | 7.453032e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.937804e-01 | 2.904324e-01 | 0.00000e+00 | 2.408238e-01 | 4.920779e-01 | 7.453030e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.056075e-01 | 2.577394e-01 | 1.86650e-03 | 1.187400e-02 | 7.970600e-02 | 3.244162e-01 | 9.981330e-01 | ▇▂▁▁▁ |
numeric | AF_reference | 353119 | 0.9718811 | NA | NA | NA | NA | NA | 2.080998e-01 | 2.495412e-01 | 0.00000e+00 | 8.785900e-03 | 1.008390e-01 | 3.296730e-01 | 1.000000e+00 | ▇▂▁▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.114900e+04 | 0.000000e+00 | 9.11490e+04 | 9.114900e+04 | 9.114900e+04 | 9.114900e+04 | 9.114900e+04 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 692794 | rs530212009 | CA | C | 0.0007870 | 0.0021421 | 0.7133095 | 0.7133094 | 0.1114870 | 0.1894970 | 91149 |
1 | 693731 | rs12238997 | A | G | 0.0013751 | 0.0020288 | 0.4979090 | 0.4979060 | 0.1164590 | 0.1417730 | 91149 |
1 | 707522 | rs371890604 | G | C | -0.0005862 | 0.0022799 | 0.7970759 | 0.7970747 | 0.0978765 | 0.1293930 | 91149 |
1 | 717587 | rs144155419 | G | A | 0.0036639 | 0.0054348 | 0.5002130 | 0.5002113 | 0.0157837 | 0.0045926 | 91149 |
1 | 730087 | rs148120343 | T | C | -0.0011902 | 0.0028120 | 0.6721218 | 0.6721196 | 0.0569973 | 0.0127796 | 91149 |
1 | 731718 | rs142557973 | T | C | -0.0001067 | 0.0019252 | 0.9557889 | 0.9557888 | 0.1223590 | 0.1543530 | 91149 |
1 | 732032 | rs61770163 | A | C | 0.0004509 | 0.0020527 | 0.8261300 | 0.8261289 | 0.1220470 | 0.1555510 | 91149 |
1 | 734349 | rs141242758 | T | C | 0.0001080 | 0.0019267 | 0.9552800 | 0.9552802 | 0.1215880 | 0.1525560 | 91149 |
1 | 740284 | rs61770167 | C | T | -0.0015419 | 0.0088465 | 0.8616369 | 0.8616370 | 0.0057444 | 0.0023962 | 91149 |
1 | 749963 | rs529266287 | T | TAA | 0.0002108 | 0.0018952 | 0.9114169 | 0.9114168 | 0.8689170 | 0.7641770 | 91149 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154923311 | rs141127553 | C | T | -0.0000065 | 0.0022536 | 0.9977010 | 0.9977008 | 0.0552869 | 0.0309934 | 91149 |
23 | 154923374 | rs111332691 | T | A | 0.0018286 | 0.0024526 | 0.4559109 | 0.4559094 | 0.0448387 | 0.0116556 | 91149 |
23 | 154925045 | rs509981 | C | T | -0.0004173 | 0.0011819 | 0.7240624 | 0.7240611 | 0.2444670 | 0.3634440 | 91149 |
23 | 154925895 | rs538470 | C | T | -0.0000281 | 0.0012084 | 0.9814690 | 0.9814686 | 0.2409490 | 0.3634440 | 91149 |
23 | 154927581 | rs644138 | G | A | -0.0003943 | 0.0011117 | 0.7227981 | 0.7227982 | 0.3001640 | 0.4635760 | 91149 |
23 | 154929412 | rs557132 | C | T | -0.0003963 | 0.0011823 | 0.7375101 | 0.7375089 | 0.2443160 | 0.3568210 | 91149 |
23 | 154929637 | rs35185538 | CT | C | -0.0003404 | 0.0012345 | 0.7827409 | 0.7827414 | 0.2286640 | 0.3011920 | 91149 |
23 | 154929952 | rs4012982 | CAA | C | -0.0005802 | 0.0012444 | 0.6410236 | 0.6410219 | 0.2382530 | 0.3165560 | 91149 |
23 | 154930230 | rs781880 | A | G | -0.0002896 | 0.0011819 | 0.8064700 | 0.8064698 | 0.2447660 | 0.3618540 | 91149 |
23 | 154930487 | rs781879 | T | A | -0.0001971 | 0.0040084 | 0.9607821 | 0.9607820 | 0.0196632 | 0.1263580 | 91149 |
1 692794 rs530212009 CA C . PASS AF=0.111487 ES:SE:LP:AF:SS:ID 0.00078704:0.0021421:0.146722:0.111487:91149:1_692794_CA_C
1 693731 rs12238997 A G . PASS AF=0.116459 ES:SE:LP:AF:SS:ID 0.00137509:0.00202879:0.30285:0.116459:91149:rs12238997
1 707522 rs371890604 G C . PASS AF=0.0978765 ES:SE:LP:AF:SS:ID -0.000586239:0.00227989:0.0985003:0.0978765:91149:rs371890604
1 717587 rs144155419 G A . PASS AF=0.0157837 ES:SE:LP:AF:SS:ID 0.00366389:0.00543477:0.300845:0.0157837:91149:rs144155419
1 730087 rs148120343 T C . PASS AF=0.0569973 ES:SE:LP:AF:SS:ID -0.00119017:0.00281204:0.172552:0.0569973:91149:rs148120343
1 731718 rs58276399 T C . PASS AF=0.122359 ES:SE:LP:AF:SS:ID -0.000106731:0.0019252:0.019638:0.122359:91149:rs58276399
1 732032 rs61770163 A C . PASS AF=0.122047 ES:SE:LP:AF:SS:ID 0.000450917:0.00205271:0.0829516:0.122047:91149:rs61770163
1 734349 rs141242758 T C . PASS AF=0.121588 ES:SE:LP:AF:SS:ID 0.000108042:0.00192666:0.0198693:0.121588:91149:rs141242758
1 740284 rs61770167 C T . PASS AF=0.00574438 ES:SE:LP:AF:SS:ID -0.00154187:0.00884654:0.0646757:0.00574438:91149:rs61770167
1 749963 rs529266287 T TAA . PASS AF=0.868917 ES:SE:LP:AF:SS:ID 0.000210843:0.00189519:0.0402829:0.868917:91149:rs529266287
1 751343 rs28544273 T A . PASS AF=0.123699 ES:SE:LP:AF:SS:ID -0.000148226:0.00187894:0.0282039:0.123699:91149:rs28544273
1 751488 rs200141114 G GA . PASS AF=0.143202 ES:SE:LP:AF:SS:ID 0.00104372:0.00186016:0.240532:0.143202:91149:rs200141114
1 751756 rs28527770 T C . PASS AF=0.123834 ES:SE:LP:AF:SS:ID -0.00017405:0.00187622:0.0333473:0.123834:91149:rs28527770
1 753405 rs3115860 C A . PASS AF=0.869892 ES:SE:LP:AF:SS:ID 0.000527909:0.00182819:0.111952:0.869892:91149:rs3115860
1 753425 rs3131970 T C . PASS AF=0.874553 ES:SE:LP:AF:SS:ID 0.000590457:0.00185784:0.124578:0.874553:91149:rs3131970
1 753541 rs2073813 G A . PASS AF=0.129529 ES:SE:LP:AF:SS:ID -0.000407441:0.00183393:0.0839764:0.129529:91149:rs2073813
1 754105 rs12184325 C T . PASS AF=0.0358205 ES:SE:LP:AF:SS:ID 0.00334773:0.00335038:0.497987:0.0358205:91149:rs12184325
1 754182 rs3131969 A G . PASS AF=0.869539 ES:SE:LP:AF:SS:ID 0.000593028:0.00182667:0.127583:0.869539:91149:rs3131969
1 754192 rs3131968 A G . PASS AF=0.869616 ES:SE:LP:AF:SS:ID 0.000558273:0.00182746:0.11919:0.869616:91149:rs3131968
1 754334 rs3131967 T C . PASS AF=0.869535 ES:SE:LP:AF:SS:ID 0.000586202:0.00182659:0.125943:0.869535:91149:rs3131967
1 754433 rs150578204 G A . PASS AF=0.00531588 ES:SE:LP:AF:SS:ID -0.0094468:0.00912467:0.522112:0.00531588:91149:rs150578204
1 754458 rs142682604 G T . PASS AF=0.00528125 ES:SE:LP:AF:SS:ID -0.00939419:0.00914734:0.516513:0.00528125:91149:rs142682604
1 755435 rs184270342 T G . PASS AF=0.0056599 ES:SE:LP:AF:SS:ID -0.00567969:0.00899237:0.277661:0.0056599:91149:rs184270342
1 755890 rs3115858 A T . PASS AF=0.86952 ES:SE:LP:AF:SS:ID 0.000597313:0.00182283:0.128923:0.86952:91149:rs3115858
1 756434 rs61768170 G C . PASS AF=0.126911 ES:SE:LP:AF:SS:ID -0.000342567:0.00186079:0.0685742:0.126911:91149:rs61768170
1 756604 rs3131962 A G . PASS AF=0.86905 ES:SE:LP:AF:SS:ID 0.000446927:0.00181811:0.0937603:0.86905:91149:rs3131962
1 757640 rs3115853 G A . PASS AF=0.868436 ES:SE:LP:AF:SS:ID 0.000430833:0.00181696:0.0901414:0.868436:91149:rs3115853
1 757734 rs4951929 C T . PASS AF=0.869199 ES:SE:LP:AF:SS:ID 0.000428292:0.00181976:0.0894119:0.869199:91149:rs4951929
1 757936 rs4951862 C A . PASS AF=0.869205 ES:SE:LP:AF:SS:ID 0.000425014:0.00181988:0.0886597:0.869205:91149:rs4951862
1 758144 rs3131956 A G . PASS AF=0.869207 ES:SE:LP:AF:SS:ID 0.000421912:0.00181989:0.0879545:0.869207:91149:rs3131956
1 758626 rs3131954 C T . PASS AF=0.869687 ES:SE:LP:AF:SS:ID 0.00060084:0.00182476:0.129624:0.869687:91149:rs3131954
1 759293 rs10157329 T A . PASS AF=0.0991787 ES:SE:LP:AF:SS:ID -0.00099376:0.00212357:0.193949:0.0991787:91149:rs10157329
1 759600 rs545998451 AGT A . PASS AF=0.00649624 ES:SE:LP:AF:SS:ID -0.0049026:0.00819256:0.259985:0.00649624:91149:1_759600_AGT_A
1 759837 rs3115851 T A . PASS AF=0.873682 ES:SE:LP:AF:SS:ID 0.000648828:0.00185178:0.139031:0.873682:91149:rs3115851
1 761732 rs2286139 C T . PASS AF=0.863058 ES:SE:LP:AF:SS:ID 0.000327774:0.00181645:0.0671195:0.863058:91149:rs2286139
1 761752 rs1057213 C T . PASS AF=0.868472 ES:SE:LP:AF:SS:ID 0.000393787:0.00183447:0.0809046:0.868472:91149:rs1057213
1 762273 rs3115849 G A . PASS AF=0.865369 ES:SE:LP:AF:SS:ID 0.000386901:0.00183482:0.0793592:0.865369:91149:rs3115849
1 762485 rs12095200 C A . PASS AF=0.0995228 ES:SE:LP:AF:SS:ID -0.000470684:0.00219593:0.0807754:0.0995228:91149:rs12095200
1 762589 rs3115848 G C . PASS AF=0.870657 ES:SE:LP:AF:SS:ID 0.000829136:0.00185572:0.183745:0.870657:91149:rs3115848
1 762592 rs3131950 C G . PASS AF=0.870657 ES:SE:LP:AF:SS:ID 0.00082917:0.00185572:0.183754:0.870657:91149:rs3131950
1 762601 rs3131949 T C . PASS AF=0.870654 ES:SE:LP:AF:SS:ID 0.000828956:0.00185573:0.183698:0.870654:91149:rs3131949
1 762632 rs3131948 T A . PASS AF=0.871019 ES:SE:LP:AF:SS:ID 0.000707649:0.00185659:0.15299:0.871019:91149:rs3131948
1 764191 rs7515915 T G . PASS AF=0.126515 ES:SE:LP:AF:SS:ID -0.000573591:0.00185865:0.120547:0.126515:91149:rs7515915
1 766007 rs61768174 A C . PASS AF=0.106037 ES:SE:LP:AF:SS:ID -0.000109983:0.00202037:0.0192755:0.106037:91149:rs61768174
1 766105 rs2519015 T A . PASS AF=0.85438 ES:SE:LP:AF:SS:ID 0.000790553:0.00181576:0.1783:0.85438:91149:rs2519015
1 768116 rs376645387 A AGTTTT . PASS AF=0.839153 ES:SE:LP:AF:SS:ID -0.00244007:0.00179403:0.759953:0.839153:91149:rs376645387
1 768253 rs2977608 A C . PASS AF=0.763195 ES:SE:LP:AF:SS:ID -0.00123737:0.0014425:0.407813:0.763195:91149:rs2977608
1 768448 rs12562034 G A . PASS AF=0.105092 ES:SE:LP:AF:SS:ID 0.0030442:0.00198777:0.90081:0.105092:91149:rs12562034
1 768819 rs12562811 C T . PASS AF=0.00772317 ES:SE:LP:AF:SS:ID -0.0106805:0.00736536:0.832579:0.00772317:91149:rs12562811
1 769138 rs59306077 CAT C . PASS AF=0.129904 ES:SE:LP:AF:SS:ID -1.46171e-05:0.00183269:0.00277268:0.129904:91149:rs762168062