{
"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-22617_2317,TotalVariants=9908025,VariantsNotRead=0,HarmonisedVariants=9908025,VariantsNotHarmonised=0,SwitchedAlleles=209,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-22617_2317/ukb-d-22617_2317_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2019-11-25T13:49:27.609709",
"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-22617_2317/ukb-d-22617_2317.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-22617_2317/ukb-d-22617_2317_data.vcf.gz; Date=Mon Nov 25 14:39:45 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-22617_2317/ukb-d-22617_2317.vcf.gz; Date=Sun May 10 11:36:21 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-22617_2317/ukb-d-22617_2317.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-22617_2317/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 15:04:08 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-22617_2317/ukb-d-22617_2317.vcf.gz ...
Read summary statistics for 9908025 SNPs.
Dropped 7611 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, 1277425 SNPs remain.
After merging with regression SNP LD, 1277425 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: -0.0016 (0.0047)
Lambda GC: 0.9888
Mean Chi^2: 0.9958
Intercept: 0.9988 (0.0063)
Ratio: NA (mean chi^2 < 1)
Analysis finished at Mon Nov 25 15:05:47 2019
Total time elapsed: 1.0m:38.87s
{
"af_correlation": 0.9411,
"inflation_factor": 0.9821,
"mean_EFFECT": 5.2584e-06,
"n": 91149,
"n_snps": 9908025,
"n_clumped_hits": 0,
"n_p_sig": 0,
"n_mono": 0,
"n_ns": 1077144,
"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": 196279,
"n_est": 91164.004,
"ratio_se_n": 1.0001,
"mean_diff": 0,
"ratio_diff": 42.5608,
"sd_y_est1": 0.1253,
"sd_y_est2": 0.1253,
"r2_sum1": 0,
"r2_sum2": 0,
"r2_sum3": 0,
"r2_sum4": 0,
"ldsc_nsnp_merge_refpanel_ld": 1277425,
"ldsc_nsnp_merge_regression_ld": 1277425,
"ldsc_observed_scale_h2_beta": "NA",
"ldsc_observed_scale_h2_se": "NA",
"ldsc_intercept_beta": 0.9988,
"ldsc_intercept_se": 0.0063,
"ldsc_lambda_gc": 0.9888,
"ldsc_mean_chisq": 0.9958,
"ldsc_ratio": 0.2857
}
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 | 9900962 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 98 | 0 | 47886 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 342 | 0 | 30005 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.080416e+00 | 6.176890e+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 | 7.875231e+07 | 5.609462e+07 | 3.02000e+02 | 3.246175e+07 | 6.965206e+07 | 1.147367e+08 | 2.492297e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 5.300000e-06 | 1.382600e-03 | -1.47773e-02 | -6.408000e-04 | -5.000000e-07 | 6.363000e-04 | 1.608900e-02 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.191500e-03 | 7.107000e-04 | 4.85000e-04 | 6.453000e-04 | 8.733000e-04 | 1.537200e-03 | 3.980100e-03 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 5.026998e-01 | 2.883523e-01 | 2.00000e-07 | 2.538622e-01 | 5.038694e-01 | 7.522150e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 5.026981e-01 | 2.883534e-01 | 2.00000e-07 | 2.538587e-01 | 5.038687e-01 | 7.522136e-01 | 9.999999e-01 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.566789e-01 | 2.629440e-01 | 8.63860e-03 | 4.011060e-02 | 1.524570e-01 | 4.091770e-01 | 9.913610e-01 | ▇▂▂▁▁ |
numeric | AF_reference | 196279 | 0.9801899 | NA | NA | NA | NA | NA | 2.562903e-01 | 2.537661e-01 | 0.00000e+00 | 4.492810e-02 | 1.681310e-01 | 4.051520e-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 | 0.0001584 | 0.0010259 | 0.8772810 | 0.8772801 | 0.1114870 | 0.1894970 | 91149 |
1 | 693731 | rs12238997 | A | G | 0.0008489 | 0.0009716 | 0.3822892 | 0.3822863 | 0.1164590 | 0.1417730 | 91149 |
1 | 707522 | rs371890604 | G | C | 0.0015265 | 0.0010919 | 0.1620981 | 0.1620955 | 0.0978765 | 0.1293930 | 91149 |
1 | 717587 | rs144155419 | G | A | -0.0029968 | 0.0026029 | 0.2495991 | 0.2495966 | 0.0157837 | 0.0045926 | 91149 |
1 | 730087 | rs148120343 | T | C | 0.0008097 | 0.0013468 | 0.5477205 | 0.5477202 | 0.0569973 | 0.0127796 | 91149 |
1 | 731718 | rs142557973 | T | C | 0.0008773 | 0.0009220 | 0.3413603 | 0.3413575 | 0.1223590 | 0.1543530 | 91149 |
1 | 732032 | rs61770163 | A | C | 0.0012086 | 0.0009831 | 0.2189208 | 0.2189174 | 0.1220470 | 0.1555510 | 91149 |
1 | 734349 | rs141242758 | T | C | 0.0008793 | 0.0009227 | 0.3406348 | 0.3406322 | 0.1215880 | 0.1525560 | 91149 |
1 | 749963 | rs529266287 | T | TAA | -0.0009832 | 0.0009077 | 0.2787013 | 0.2786976 | 0.8689170 | 0.7641770 | 91149 |
1 | 751343 | rs28544273 | T | A | 0.0008879 | 0.0008999 | 0.3237860 | 0.3237836 | 0.1236990 | 0.2426120 | 91149 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154923311 | rs141127553 | C | T | -0.0003179 | 0.0010793 | 0.7683374 | 0.7683360 | 0.0552869 | 0.0309934 | 91149 |
23 | 154923374 | rs111332691 | T | A | -0.0008875 | 0.0011746 | 0.4499042 | 0.4499033 | 0.0448387 | 0.0116556 | 91149 |
23 | 154925045 | rs509981 | C | T | -0.0001715 | 0.0005661 | 0.7619579 | 0.7619576 | 0.2444670 | 0.3634440 | 91149 |
23 | 154925895 | rs538470 | C | T | -0.0001088 | 0.0005787 | 0.8509170 | 0.8509168 | 0.2409490 | 0.3634440 | 91149 |
23 | 154927581 | rs644138 | G | A | -0.0002528 | 0.0005324 | 0.6349288 | 0.6349274 | 0.3001640 | 0.4635760 | 91149 |
23 | 154929412 | rs557132 | C | T | -0.0001630 | 0.0005662 | 0.7734122 | 0.7734116 | 0.2443160 | 0.3568210 | 91149 |
23 | 154929637 | rs35185538 | CT | C | 0.0000123 | 0.0005912 | 0.9834210 | 0.9834209 | 0.2286640 | 0.3011920 | 91149 |
23 | 154929952 | rs4012982 | CAA | C | -0.0001630 | 0.0005960 | 0.7844513 | 0.7844510 | 0.2382530 | 0.3165560 | 91149 |
23 | 154930230 | rs781880 | A | G | -0.0001860 | 0.0005661 | 0.7424633 | 0.7424625 | 0.2447660 | 0.3618540 | 91149 |
23 | 154930487 | rs781879 | T | A | 0.0011150 | 0.0019198 | 0.5613865 | 0.5613881 | 0.0196632 | 0.1263580 | 91149 |
1 692794 rs530212009 CA C . PASS AF=0.111487 ES:SE:LP:AF:SS:ID 0.000158419:0.00102591:0.0568613:0.111487:91149:1_692794_CA_C
1 693731 rs12238997 A G . PASS AF=0.116459 ES:SE:LP:AF:SS:ID 0.000848917:0.000971644:0.417608:0.116459:91149:rs12238997
1 707522 rs371890604 G C . PASS AF=0.0978765 ES:SE:LP:AF:SS:ID 0.00152654:0.0010919:0.790222:0.0978765:91149:rs371890604
1 717587 rs144155419 G A . PASS AF=0.0157837 ES:SE:LP:AF:SS:ID -0.00299675:0.00260286:0.602757:0.0157837:91149:rs144155419
1 730087 rs148120343 T C . PASS AF=0.0569973 ES:SE:LP:AF:SS:ID 0.000809651:0.00134677:0.261441:0.0569973:91149:rs148120343
1 731718 rs58276399 T C . PASS AF=0.122359 ES:SE:LP:AF:SS:ID 0.000877298:0.000922029:0.466787:0.122359:91149:rs58276399
1 732032 rs61770163 A C . PASS AF=0.122047 ES:SE:LP:AF:SS:ID 0.00120863:0.000983096:0.659713:0.122047:91149:rs61770163
1 734349 rs141242758 T C . PASS AF=0.121588 ES:SE:LP:AF:SS:ID 0.000879283:0.000922728:0.467711:0.121588:91149:rs141242758
1 749963 rs529266287 T TAA . PASS AF=0.868917 ES:SE:LP:AF:SS:ID -0.000983218:0.000907656:0.554861:0.868917:91149:rs529266287
1 751343 rs28544273 T A . PASS AF=0.123699 ES:SE:LP:AF:SS:ID 0.000887916:0.000899873:0.489742:0.123699:91149:rs28544273
1 751488 rs200141114 G GA . PASS AF=0.143202 ES:SE:LP:AF:SS:ID 0.000882859:0.000890882:0.492561:0.143202:91149:rs200141114
1 751756 rs28527770 T C . PASS AF=0.123834 ES:SE:LP:AF:SS:ID 0.000910844:0.000898571:0.50759:0.123834:91149:rs28527770
1 753405 rs3115860 C A . PASS AF=0.869892 ES:SE:LP:AF:SS:ID -0.0010922:0.000875568:0.673158:0.869892:91149:rs3115860
1 753425 rs3131970 T C . PASS AF=0.874553 ES:SE:LP:AF:SS:ID -0.000951905:0.00088977:0.545617:0.874553:91149:rs3131970
1 753541 rs2073813 G A . PASS AF=0.129529 ES:SE:LP:AF:SS:ID 0.00109478:0.000878316:0.672437:0.129529:91149:rs2073813
1 754105 rs12184325 C T . PASS AF=0.0358205 ES:SE:LP:AF:SS:ID 0.00103037:0.0016046:0.283341:0.0358205:91149:rs12184325
1 754182 rs3131969 A G . PASS AF=0.869539 ES:SE:LP:AF:SS:ID -0.00113554:0.000874836:0.711554:0.869539:91149:rs3131969
1 754192 rs3131968 A G . PASS AF=0.869616 ES:SE:LP:AF:SS:ID -0.00114135:0.000875218:0.716222:0.869616:91149:rs3131968
1 754334 rs3131967 T C . PASS AF=0.869535 ES:SE:LP:AF:SS:ID -0.00113646:0.0008748:0.712404:0.869535:91149:rs3131967
1 755890 rs3115858 A T . PASS AF=0.86952 ES:SE:LP:AF:SS:ID -0.00106396:0.000872998:0.6518:0.86952:91149:rs3115858
1 756434 rs61768170 G C . PASS AF=0.126911 ES:SE:LP:AF:SS:ID 0.00102092:0.000891179:0.598653:0.126911:91149:rs61768170
1 756604 rs3131962 A G . PASS AF=0.86905 ES:SE:LP:AF:SS:ID -0.00106534:0.000870738:0.655315:0.86905:91149:rs3131962
1 757640 rs3115853 G A . PASS AF=0.868436 ES:SE:LP:AF:SS:ID -0.00114578:0.000870185:0.725983:0.868436:91149:rs3115853
1 757734 rs4951929 C T . PASS AF=0.869199 ES:SE:LP:AF:SS:ID -0.00104651:0.000871528:0.638569:0.869199:91149:rs4951929
1 757936 rs4951862 C A . PASS AF=0.869205 ES:SE:LP:AF:SS:ID -0.00104575:0.000871585:0.637874:0.869205:91149:rs4951862
1 758144 rs3131956 A G . PASS AF=0.869207 ES:SE:LP:AF:SS:ID -0.00104578:0.000871592:0.637895:0.869207:91149:rs3131956
1 758626 rs3131954 C T . PASS AF=0.869687 ES:SE:LP:AF:SS:ID -0.00108396:0.000873924:0.667859:0.869687:91149:rs3131954
1 759293 rs10157329 T A . PASS AF=0.0991787 ES:SE:LP:AF:SS:ID 0.00147747:0.00101703:0.834753:0.0991787:91149:rs10157329
1 759837 rs3115851 T A . PASS AF=0.873682 ES:SE:LP:AF:SS:ID -0.00101823:0.000886868:0.60046:0.873682:91149:rs3115851
1 761732 rs2286139 C T . PASS AF=0.863058 ES:SE:LP:AF:SS:ID -0.00129463:0.000869942:0.864206:0.863058:91149:rs2286139
1 761752 rs1057213 C T . PASS AF=0.868472 ES:SE:LP:AF:SS:ID -0.000992033:0.000878577:0.586962:0.868472:91149:rs1057213
1 762273 rs3115849 G A . PASS AF=0.865369 ES:SE:LP:AF:SS:ID -0.00115134:0.000878741:0.720954:0.865369:91149:rs3115849
1 762485 rs12095200 C A . PASS AF=0.0995228 ES:SE:LP:AF:SS:ID 0.0013225:0.00105169:0.680738:0.0995228:91149:rs12095200
1 762589 rs3115848 G C . PASS AF=0.870657 ES:SE:LP:AF:SS:ID -0.00116841:0.000888751:0.724403:0.870657:91149:rs3115848
1 762592 rs3131950 C G . PASS AF=0.870657 ES:SE:LP:AF:SS:ID -0.0011682:0.00088875:0.724219:0.870657:91149:rs3131950
1 762601 rs3131949 T C . PASS AF=0.870654 ES:SE:LP:AF:SS:ID -0.00116818:0.000888753:0.724198:0.870654:91149:rs3131949
1 762632 rs3131948 T A . PASS AF=0.871019 ES:SE:LP:AF:SS:ID -0.00112441:0.000889167:0.68607:0.871019:91149:rs3131948
1 764191 rs7515915 T G . PASS AF=0.126515 ES:SE:LP:AF:SS:ID 0.00102447:0.000890157:0.602439:0.126515:91149:rs7515915
1 766007 rs61768174 A C . PASS AF=0.106037 ES:SE:LP:AF:SS:ID 0.0014262:0.000967603:0.852327:0.106037:91149:rs61768174
1 766105 rs2519015 T A . PASS AF=0.85438 ES:SE:LP:AF:SS:ID -0.00118469:0.000869611:0.761703:0.85438:91149:rs2519015
1 768116 rs376645387 A AGTTTT . PASS AF=0.839153 ES:SE:LP:AF:SS:ID 9.08804e-05:0.000859222:0.038216:0.839153:91149:rs376645387
1 768253 rs2977608 A C . PASS AF=0.763195 ES:SE:LP:AF:SS:ID -0.000410762:0.000690858:0.257956:0.763195:91149:rs2977608
1 768448 rs12562034 G A . PASS AF=0.105092 ES:SE:LP:AF:SS:ID -0.000642955:0.000952009:0.301512:0.105092:91149:rs12562034
1 769138 rs59306077 CAT C . PASS AF=0.129904 ES:SE:LP:AF:SS:ID 0.000968949:0.000877724:0.56924:0.129904:91149:rs762168062
1 769223 rs60320384 C G . PASS AF=0.129636 ES:SE:LP:AF:SS:ID 0.00103101:0.000876569:0.620653:0.129636:91149:rs60320384
1 769963 rs7518545 G A . PASS AF=0.104365 ES:SE:LP:AF:SS:ID -0.000611848:0.0009594:0.280963:0.104365:91149:rs7518545
1 770181 rs146076599 A G . PASS AF=0.00906976 ES:SE:LP:AF:SS:ID 0.00412487:0.00337302:0.654879:0.00906976:91149:rs146076599
1 770886 rs371458725 G A . PASS AF=0.103379 ES:SE:LP:AF:SS:ID -0.000682892:0.000967697:0.318411:0.103379:91149:rs371458725
1 771410 rs2519006 C T . PASS AF=0.829291 ES:SE:LP:AF:SS:ID -0.000778487:0.000855205:0.440487:0.829291:91149:rs2519006
1 771823 rs2977605 T C . PASS AF=0.869067 ES:SE:LP:AF:SS:ID -0.00101577:0.000872344:0.612148:0.869067:91149:rs2977605