{
"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-22660_107,TotalVariants=11471562,VariantsNotRead=0,HarmonisedVariants=11471562,VariantsNotHarmonised=0,SwitchedAlleles=223,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-22660_107/ukb-d-22660_107_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2019-11-25T13:36:37.405027",
"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-22660_107/ukb-d-22660_107.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-22660_107/ukb-d-22660_107_data.vcf.gz; Date=Mon Nov 25 14:27:03 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-22660_107/ukb-d-22660_107.vcf.gz; Date=Sun May 10 00:35:03 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-22660_107/ukb-d-22660_107.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-22660_107/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 14:56:18 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-22660_107/ukb-d-22660_107.vcf.gz ...
Read summary statistics for 11471562 SNPs.
Dropped 9730 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, 1282600 SNPs remain.
After merging with regression SNP LD, 1282600 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0046 (0.0063)
Lambda GC: 1.0077
Mean Chi^2: 1.0068
Intercept: 1.0007 (0.006)
Ratio: 0.0964 (0.8782)
Analysis finished at Mon Nov 25 14:58:15 2019
Total time elapsed: 1.0m:56.11s
{
"af_correlation": 0.9475,
"inflation_factor": 1.011,
"mean_EFFECT": 2.0318e-06,
"n": 67655,
"n_snps": 11471562,
"n_clumped_hits": 1,
"n_p_sig": 8,
"n_mono": 0,
"n_ns": 1160603,
"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": 242191,
"n_est": 67768.5073,
"ratio_se_n": 1.0008,
"mean_diff": 8.6568e-06,
"ratio_diff": 9.4645,
"sd_y_est1": 0.2077,
"sd_y_est2": 0.2079,
"r2_sum1": 0,
"r2_sum2": 0.0005,
"r2_sum3": 0.0005,
"r2_sum4": 0.0005,
"ldsc_nsnp_merge_refpanel_ld": 1282600,
"ldsc_nsnp_merge_regression_ld": 1282600,
"ldsc_observed_scale_h2_beta": 0.0046,
"ldsc_observed_scale_h2_se": 0.0063,
"ldsc_intercept_beta": 1.0007,
"ldsc_intercept_se": 0.006,
"ldsc_lambda_gc": 1.0077,
"ldsc_mean_chisq": 1.0068,
"ldsc_ratio": 0.1029
}
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 | 11462437 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 100 | 0 | 52206 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 342 | 0 | 31703 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.073837e+00 | 6.183577e+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 | 7.884435e+07 | 5.599918e+07 | 3.02000e+02 | 3.263645e+07 | 6.984696e+07 | 1.147284e+08 | 2.492309e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.000000e-06 | 3.886500e-03 | -3.73397e-02 | -1.461200e-03 | -1.710000e-05 | 1.412200e-03 | 4.638690e-02 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.072400e-03 | 2.376100e-03 | 9.42200e-04 | 1.282700e-03 | 1.946800e-03 | 4.172200e-03 | 1.394360e-02 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.984890e-01 | 2.892638e-01 | 0.00000e+00 | 2.473143e-01 | 4.976500e-01 | 7.492936e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.984867e-01 | 2.892652e-01 | 0.00000e+00 | 2.473103e-01 | 4.976473e-01 | 7.492933e-01 | 9.999999e-01 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.240370e-01 | 2.607803e-01 | 3.46260e-03 | 1.958890e-02 | 1.057780e-01 | 3.578840e-01 | 9.965370e-01 | ▇▂▁▁▁ |
numeric | AF_reference | 242191 | 0.9788877 | NA | NA | NA | NA | NA | 2.246924e-01 | 2.520308e-01 | 0.00000e+00 | 1.697280e-02 | 1.242010e-01 | 3.576280e-01 | 1.000000e+00 | ▇▂▂▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 6.765500e+04 | 0.000000e+00 | 6.76550e+04 | 6.765500e+04 | 6.765500e+04 | 6.765500e+04 | 6.765500e+04 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 692794 | rs530212009 | CA | C | 0.0003074 | 0.0019736 | 0.8762320 | 0.8762316 | 0.1113330 | 0.1894970 | 67655 |
1 | 693731 | rs12238997 | A | G | -0.0000430 | 0.0018696 | 0.9816410 | 0.9816410 | 0.1164250 | 0.1417730 | 67655 |
1 | 707522 | rs371890604 | G | C | 0.0008465 | 0.0021020 | 0.6871697 | 0.6871681 | 0.0978617 | 0.1293930 | 67655 |
1 | 717587 | rs144155419 | G | A | -0.0070455 | 0.0050054 | 0.1592608 | 0.1592565 | 0.0157910 | 0.0045926 | 67655 |
1 | 730087 | rs148120343 | T | C | 0.0043564 | 0.0025930 | 0.0929544 | 0.0929511 | 0.0569430 | 0.0127796 | 67655 |
1 | 731718 | rs142557973 | T | C | 0.0001371 | 0.0017744 | 0.9384130 | 0.9384131 | 0.1223980 | 0.1543530 | 67655 |
1 | 732032 | rs61770163 | A | C | -0.0000722 | 0.0018924 | 0.9695589 | 0.9695584 | 0.1220450 | 0.1555510 | 67655 |
1 | 734349 | rs141242758 | T | C | 0.0002086 | 0.0017758 | 0.9064989 | 0.9064994 | 0.1216050 | 0.1525560 | 67655 |
1 | 740284 | rs61770167 | C | T | 0.0063052 | 0.0082050 | 0.4422196 | 0.4422175 | 0.0056852 | 0.0023962 | 67655 |
1 | 749963 | rs529266287 | T | TAA | 0.0002914 | 0.0017462 | 0.8674880 | 0.8674874 | 0.8688800 | 0.7641770 | 67655 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154923311 | rs141127553 | C | T | -0.0028219 | 0.0021166 | 0.1824559 | 0.1824503 | 0.0547784 | 0.0309934 | 67655 |
23 | 154923374 | rs111332691 | T | A | -0.0015834 | 0.0023032 | 0.4917926 | 0.4917916 | 0.0442687 | 0.0116556 | 67655 |
23 | 154925045 | rs509981 | C | T | -0.0009597 | 0.0010995 | 0.3827243 | 0.3827200 | 0.2448950 | 0.3634440 | 67655 |
23 | 154925895 | rs538470 | C | T | -0.0006447 | 0.0011243 | 0.5663879 | 0.5663851 | 0.2412550 | 0.3634440 | 67655 |
23 | 154927581 | rs644138 | G | A | -0.0015556 | 0.0010356 | 0.1330721 | 0.1330663 | 0.3000720 | 0.4635760 | 67655 |
23 | 154929412 | rs557132 | C | T | -0.0009426 | 0.0010998 | 0.3914119 | 0.3914109 | 0.2447530 | 0.3568210 | 67655 |
23 | 154929637 | rs35185538 | CT | C | -0.0017688 | 0.0011489 | 0.1236571 | 0.1236525 | 0.2291340 | 0.3011920 | 67655 |
23 | 154929952 | rs4012982 | CAA | C | -0.0004268 | 0.0011578 | 0.7124231 | 0.7124225 | 0.2385660 | 0.3165560 | 67655 |
23 | 154930230 | rs781880 | A | G | -0.0009549 | 0.0010996 | 0.3851643 | 0.3851621 | 0.2451600 | 0.3618540 | 67655 |
23 | 154930487 | rs781879 | T | A | -0.0039085 | 0.0037635 | 0.2990247 | 0.2990206 | 0.0193551 | 0.1263580 | 67655 |
1 692794 rs530212009 CA C . PASS AF=0.111333 ES:SE:LP:AF:SS:ID 0.000307386:0.00197361:0.0573809:0.111333:67655:1_692794_CA_C
1 693731 rs12238997 A G . PASS AF=0.116425 ES:SE:LP:AF:SS:ID -4.30236e-05:0.00186965:0.00804731:0.116425:67655:rs12238997
1 707522 rs371890604 G C . PASS AF=0.0978617 ES:SE:LP:AF:SS:ID 0.000846498:0.00210205:0.162936:0.0978617:67655:rs371890604
1 717587 rs144155419 G A . PASS AF=0.015791 ES:SE:LP:AF:SS:ID -0.00704547:0.00500539:0.797891:0.015791:67655:rs144155419
1 730087 rs148120343 T C . PASS AF=0.056943 ES:SE:LP:AF:SS:ID 0.00435639:0.00259304:1.03173:0.056943:67655:rs148120343
1 731718 rs58276399 T C . PASS AF=0.122398 ES:SE:LP:AF:SS:ID 0.000137099:0.00177441:0.027606:0.122398:67655:rs58276399
1 732032 rs61770163 A C . PASS AF=0.122045 ES:SE:LP:AF:SS:ID -7.22195e-05:0.00189244:0.0134258:0.122045:67655:rs61770163
1 734349 rs141242758 T C . PASS AF=0.121605 ES:SE:LP:AF:SS:ID 0.000208571:0.00177575:0.0426327:0.121605:67655:rs141242758
1 740284 rs61770167 C T . PASS AF=0.00568516 ES:SE:LP:AF:SS:ID 0.00630515:0.00820498:0.354362:0.00568516:67655:rs61770167
1 749963 rs529266287 T TAA . PASS AF=0.86888 ES:SE:LP:AF:SS:ID 0.00029135:0.00174617:0.0617365:0.86888:67655:rs529266287
1 751343 rs28544273 T A . PASS AF=0.123646 ES:SE:LP:AF:SS:ID -1.74911e-05:0.00173191:0.00351372:0.123646:67655:rs28544273
1 751488 rs200141114 G GA . PASS AF=0.143073 ES:SE:LP:AF:SS:ID -0.00117724:0.00171413:0.307841:0.143073:67655:rs200141114
1 751756 rs28527770 T C . PASS AF=0.123779 ES:SE:LP:AF:SS:ID -5.02711e-05:0.00172937:0.0101899:0.123779:67655:rs28527770
1 753405 rs3115860 C A . PASS AF=0.869863 ES:SE:LP:AF:SS:ID 8.2466e-05:0.00168485:0.0172933:0.869863:67655:rs3115860
1 753425 rs3131970 T C . PASS AF=0.874632 ES:SE:LP:AF:SS:ID -9.75789e-05:0.00171293:0.0201913:0.874632:67655:rs3131970
1 753541 rs2073813 G A . PASS AF=0.129534 ES:SE:LP:AF:SS:ID -0.000147926:0.00168991:0.0314017:0.129534:67655:rs2073813
1 754105 rs12184325 C T . PASS AF=0.0358436 ES:SE:LP:AF:SS:ID -0.00186828:0.00308474:0.263804:0.0358436:67655:rs12184325
1 754182 rs3131969 A G . PASS AF=0.869516 ES:SE:LP:AF:SS:ID 9.12196e-05:0.00168336:0.0191856:0.869516:67655:rs3131969
1 754192 rs3131968 A G . PASS AF=0.869601 ES:SE:LP:AF:SS:ID 6.77238e-05:0.00168422:0.0141583:0.869601:67655:rs3131968
1 754334 rs3131967 T C . PASS AF=0.86951 ES:SE:LP:AF:SS:ID 9.66827e-05:0.00168328:0.020362:0.86951:67655:rs3131967
1 754433 rs150578204 G A . PASS AF=0.00535705 ES:SE:LP:AF:SS:ID -0.0114081:0.00838453:0.760348:0.00535705:67655:rs150578204
1 754458 rs142682604 G T . PASS AF=0.00532268 ES:SE:LP:AF:SS:ID -0.0111397:0.00840566:0.732617:0.00532268:67655:rs142682604
1 755435 rs184270342 T G . PASS AF=0.00587606 ES:SE:LP:AF:SS:ID 0.0125533:0.00809829:0.916795:0.00587606:67655:rs184270342
1 755890 rs3115858 A T . PASS AF=0.869521 ES:SE:LP:AF:SS:ID 2.28432e-05:0.00168007:0.00473697:0.869521:67655:rs3115858
1 756434 rs61768170 G C . PASS AF=0.126879 ES:SE:LP:AF:SS:ID -0.000232277:0.00171485:0.0495105:0.126879:67655:rs61768170
1 756604 rs3131962 A G . PASS AF=0.869086 ES:SE:LP:AF:SS:ID 4.54736e-05:0.00167581:0.00950486:0.869086:67655:rs3131962
1 757640 rs3115853 G A . PASS AF=0.86843 ES:SE:LP:AF:SS:ID 0.000128793:0.00167404:0.0274847:0.86843:67655:rs3115853
1 757734 rs4951929 C T . PASS AF=0.869213 ES:SE:LP:AF:SS:ID 6.11251e-05:0.00167718:0.0128134:0.869213:67655:rs4951929
1 757936 rs4951862 C A . PASS AF=0.869219 ES:SE:LP:AF:SS:ID 6.27842e-05:0.00167729:0.0131651:0.869219:67655:rs4951862
1 758144 rs3131956 A G . PASS AF=0.869221 ES:SE:LP:AF:SS:ID 6.26387e-05:0.0016773:0.0131343:0.869221:67655:rs3131956
1 758626 rs3131954 C T . PASS AF=0.869661 ES:SE:LP:AF:SS:ID 6.95175e-05:0.00168167:0.0145618:0.869661:67655:rs3131954
1 759293 rs10157329 T A . PASS AF=0.0991549 ES:SE:LP:AF:SS:ID 0.00151869:0.00195771:0.358625:0.0991549:67655:rs10157329
1 759600 rs545998451 AGT A . PASS AF=0.00672466 ES:SE:LP:AF:SS:ID 0.00757935:0.00738322:0.516229:0.00672466:67655:1_759600_AGT_A
1 759837 rs3115851 T A . PASS AF=0.873693 ES:SE:LP:AF:SS:ID 0.000164591:0.00170646:0.0347221:0.873693:67655:rs3115851
1 761732 rs2286139 C T . PASS AF=0.86311 ES:SE:LP:AF:SS:ID 3.68591e-05:0.00167372:0.00769838:0.86311:67655:rs2286139
1 761752 rs1057213 C T . PASS AF=0.868459 ES:SE:LP:AF:SS:ID 0.000254318:0.00169063:0.0553066:0.868459:67655:rs1057213
1 762273 rs3115849 G A . PASS AF=0.865449 ES:SE:LP:AF:SS:ID 0.000187466:0.00169074:0.0401419:0.865449:67655:rs3115849
1 762485 rs12095200 C A . PASS AF=0.0996966 ES:SE:LP:AF:SS:ID -0.000348794:0.00202165:0.0639781:0.0996966:67655:rs12095200
1 762589 rs3115848 G C . PASS AF=0.870704 ES:SE:LP:AF:SS:ID -7.78899e-05:0.00171007:0.0160712:0.870704:67655:rs3115848
1 762592 rs3131950 C G . PASS AF=0.870704 ES:SE:LP:AF:SS:ID -7.79643e-05:0.00171007:0.016087:0.870704:67655:rs3131950
1 762601 rs3131949 T C . PASS AF=0.870702 ES:SE:LP:AF:SS:ID -7.73175e-05:0.00171008:0.0159509:0.870702:67655:rs3131949
1 762632 rs3131948 T A . PASS AF=0.871042 ES:SE:LP:AF:SS:ID -0.000134999:0.00171089:0.0282104:0.871042:67655:rs3131948
1 764191 rs7515915 T G . PASS AF=0.126524 ES:SE:LP:AF:SS:ID -0.000323291:0.00171262:0.0704411:0.126524:67655:rs7515915
1 766007 rs61768174 A C . PASS AF=0.105925 ES:SE:LP:AF:SS:ID 0.000968722:0.00186383:0.219509:0.105925:67655:rs61768174
1 766105 rs2519015 T A . PASS AF=0.854403 ES:SE:LP:AF:SS:ID 0.000344029:0.00167298:0.0772361:0.854403:67655:rs2519015
1 768116 rs376645387 A AGTTTT . PASS AF=0.839355 ES:SE:LP:AF:SS:ID 0.00137186:0.00165245:0.391011:0.839355:67655:rs376645387
1 768253 rs2977608 A C . PASS AF=0.763322 ES:SE:LP:AF:SS:ID 0.000356718:0.00132845:0.103309:0.763322:67655:rs2977608
1 768448 rs12562034 G A . PASS AF=0.104959 ES:SE:LP:AF:SS:ID -0.000819206:0.00183236:0.183878:0.104959:67655:rs12562034
1 768819 rs12562811 C T . PASS AF=0.00786948 ES:SE:LP:AF:SS:ID -0.00523778:0.00672165:0.360672:0.00786948:67655:rs12562811
1 769138 rs59306077 CAT C . PASS AF=0.129874 ES:SE:LP:AF:SS:ID -0.000331215:0.00168903:0.0733829:0.129874:67655:rs762168062