{
"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-3446_3,TotalVariants=10458915,VariantsNotRead=0,HarmonisedVariants=10458915,VariantsNotHarmonised=0,SwitchedAlleles=213,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-3446_3/ukb-d-3446_3_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2019-11-25T15:16:41.523231",
"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-3446_3/ukb-d-3446_3.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-3446_3/ukb-d-3446_3_data.vcf.gz; Date=Mon Nov 25 15:38:27 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-3446_3/ukb-d-3446_3.vcf.gz; Date=Sat May 9 14:49:29 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-3446_3/ukb-d-3446_3.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-3446_3/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 16:49:59 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-3446_3/ukb-d-3446_3.vcf.gz ...
Read summary statistics for 10458915 SNPs.
Dropped 8327 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, 1280488 SNPs remain.
After merging with regression SNP LD, 1280488 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0222 (0.0147)
Lambda GC: 1.0216
Mean Chi^2: 1.015
Intercept: 1.0031 (0.0057)
Ratio: 0.2089 (0.3785)
Analysis finished at Mon Nov 25 16:51:44 2019
Total time elapsed: 1.0m:44.55s
{
"af_correlation": 0.9438,
"inflation_factor": 1.0215,
"mean_EFFECT": -2.5952e-06,
"n": 27583,
"n_snps": 10458915,
"n_clumped_hits": 0,
"n_p_sig": 2,
"n_mono": 0,
"n_ns": 1109536,
"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": 205805,
"n_est": 27672.2046,
"ratio_se_n": 1.0016,
"mean_diff": -6.2812e-06,
"ratio_diff": 3.8915,
"sd_y_est1": 0.247,
"sd_y_est2": 0.2474,
"r2_sum1": 0,
"r2_sum2": 0,
"r2_sum3": 0,
"r2_sum4": 0,
"ldsc_nsnp_merge_refpanel_ld": 1280488,
"ldsc_nsnp_merge_regression_ld": 1280488,
"ldsc_observed_scale_h2_beta": 0.0222,
"ldsc_observed_scale_h2_se": 0.0147,
"ldsc_intercept_beta": 1.0031,
"ldsc_intercept_se": 0.0057,
"ldsc_lambda_gc": 1.0216,
"ldsc_mean_chisq": 1.015,
"ldsc_ratio": 0.2067
}
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 | 10451152 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 100 | 0 | 49581 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 342 | 0 | 30712 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.075965e+00 | 6.178127e+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 | 7.878581e+07 | 5.605264e+07 | 3.02000e+02 | 3.255454e+07 | 6.972527e+07 | 1.147304e+08 | 2.492309e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | -2.600000e-06 | 5.688200e-03 | -5.34061e-02 | -2.473000e-03 | -2.140000e-05 | 2.430000e-03 | 6.210950e-02 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.713800e-03 | 3.121700e-03 | 1.69180e-03 | 2.338000e-03 | 3.282200e-03 | 6.188100e-03 | 1.784200e-02 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.966627e-01 | 2.893202e-01 | 0.00000e+00 | 2.454929e-01 | 4.954205e-01 | 7.468425e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.966569e-01 | 2.893236e-01 | 0.00000e+00 | 2.454833e-01 | 4.954144e-01 | 7.468406e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.443103e-01 | 2.626494e-01 | 6.21580e-03 | 3.129210e-02 | 1.345270e-01 | 3.908800e-01 | 9.937840e-01 | ▇▂▂▁▁ |
numeric | AF_reference | 205805 | 0.9803225 | NA | NA | NA | NA | NA | 2.441679e-01 | 2.535877e-01 | 0.00000e+00 | 3.274760e-02 | 1.513580e-01 | 3.877800e-01 | 1.000000e+00 | ▇▂▂▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.758300e+04 | 0.000000e+00 | 2.75830e+04 | 2.758300e+04 | 2.758300e+04 | 2.758300e+04 | 2.758300e+04 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 692794 | rs530212009 | CA | C | 0.0050884 | 0.0036888 | 0.1677799 | 0.1677689 | 0.1100050 | 0.1894970 | 27583 |
1 | 693731 | rs12238997 | A | G | 0.0008289 | 0.0034838 | 0.8119390 | 0.8119370 | 0.1148600 | 0.1417730 | 27583 |
1 | 707522 | rs371890604 | G | C | 0.0037411 | 0.0039396 | 0.3423103 | 0.3423021 | 0.0955608 | 0.1293930 | 27583 |
1 | 717587 | rs144155419 | G | A | -0.0035858 | 0.0092490 | 0.6982453 | 0.6982418 | 0.0159292 | 0.0045926 | 27583 |
1 | 730087 | rs148120343 | T | C | 0.0014488 | 0.0048339 | 0.7644023 | 0.7644001 | 0.0568384 | 0.0127796 | 27583 |
1 | 731718 | rs142557973 | T | C | 0.0018270 | 0.0032914 | 0.5788406 | 0.5788359 | 0.1214620 | 0.1543530 | 27583 |
1 | 732032 | rs61770163 | A | C | 0.0016389 | 0.0035210 | 0.6416069 | 0.6416038 | 0.1199310 | 0.1555510 | 27583 |
1 | 734349 | rs141242758 | T | C | 0.0017327 | 0.0032939 | 0.5988679 | 0.5988641 | 0.1206270 | 0.1525560 | 27583 |
1 | 749963 | rs529266287 | T | TAA | -0.0018448 | 0.0032603 | 0.5715063 | 0.5715010 | 0.8706360 | 0.7641770 | 27583 |
1 | 751343 | rs28544273 | T | A | 0.0021392 | 0.0032204 | 0.5065228 | 0.5065165 | 0.1225040 | 0.2426120 | 27583 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154923311 | rs141127553 | C | T | -0.0028312 | 0.0037481 | 0.4500347 | 0.4500282 | 0.0555972 | 0.0309934 | 27583 |
23 | 154923374 | rs111332691 | T | A | 0.0012542 | 0.0042077 | 0.7656530 | 0.7656496 | 0.0431788 | 0.0116556 | 27583 |
23 | 154925045 | rs509981 | C | T | -0.0004899 | 0.0019743 | 0.8040201 | 0.8040180 | 0.2466770 | 0.3634440 | 27583 |
23 | 154925895 | rs538470 | C | T | -0.0008447 | 0.0020171 | 0.6753859 | 0.6753827 | 0.2435400 | 0.3634440 | 27583 |
23 | 154927581 | rs644138 | G | A | -0.0010424 | 0.0018580 | 0.5747765 | 0.5747743 | 0.3026300 | 0.4635760 | 27583 |
23 | 154929412 | rs557132 | C | T | -0.0004571 | 0.0019750 | 0.8169660 | 0.8169643 | 0.2464860 | 0.3568210 | 27583 |
23 | 154929637 | rs35185538 | CT | C | -0.0003044 | 0.0020600 | 0.8825359 | 0.8825351 | 0.2309790 | 0.3011920 | 27583 |
23 | 154929952 | rs4012982 | CAA | C | -0.0014789 | 0.0020749 | 0.4760011 | 0.4759943 | 0.2408190 | 0.3165560 | 27583 |
23 | 154930230 | rs781880 | A | G | -0.0006232 | 0.0019738 | 0.7522012 | 0.7521992 | 0.2471770 | 0.3618540 | 27583 |
23 | 154930487 | rs781879 | T | A | 0.0042084 | 0.0069711 | 0.5460495 | 0.5460447 | 0.0186709 | 0.1263580 | 27583 |
1 692794 rs530212009 CA C . PASS AF=0.110005 ES:SE:LP:AF:SS:ID 0.00508843:0.00368885:0.77526:0.110005:27583:1_692794_CA_C
1 693731 rs12238997 A G . PASS AF=0.11486 ES:SE:LP:AF:SS:ID 0.000828891:0.00348379:0.0904766:0.11486:27583:rs12238997
1 707522 rs371890604 G C . PASS AF=0.0955608 ES:SE:LP:AF:SS:ID 0.00374112:0.00393957:0.46558:0.0955608:27583:rs371890604
1 717587 rs144155419 G A . PASS AF=0.0159292 ES:SE:LP:AF:SS:ID -0.00358579:0.009249:0.155992:0.0159292:27583:rs144155419
1 730087 rs148120343 T C . PASS AF=0.0568384 ES:SE:LP:AF:SS:ID 0.00144876:0.00483391:0.116678:0.0568384:27583:rs148120343
1 731718 rs58276399 T C . PASS AF=0.121462 ES:SE:LP:AF:SS:ID 0.00182701:0.0032914:0.237441:0.121462:27583:rs58276399
1 732032 rs61770163 A C . PASS AF=0.119931 ES:SE:LP:AF:SS:ID 0.00163889:0.00352103:0.192731:0.119931:27583:rs61770163
1 734349 rs141242758 T C . PASS AF=0.120627 ES:SE:LP:AF:SS:ID 0.00173269:0.00329387:0.222669:0.120627:27583:rs141242758
1 749963 rs529266287 T TAA . PASS AF=0.870636 ES:SE:LP:AF:SS:ID -0.00184481:0.00326029:0.242979:0.870636:27583:rs529266287
1 751343 rs28544273 T A . PASS AF=0.122504 ES:SE:LP:AF:SS:ID 0.00213924:0.00322043:0.295401:0.122504:27583:rs28544273
1 751488 rs200141114 G GA . PASS AF=0.143502 ES:SE:LP:AF:SS:ID 0.00222246:0.00316816:0.316055:0.143502:27583:rs200141114
1 751756 rs28527770 T C . PASS AF=0.12255 ES:SE:LP:AF:SS:ID 0.00219988:0.00321692:0.306204:0.12255:27583:rs28527770
1 753405 rs3115860 C A . PASS AF=0.871449 ES:SE:LP:AF:SS:ID -0.0036847:0.00313656:0.619606:0.871449:27583:rs3115860
1 753425 rs3131970 T C . PASS AF=0.87633 ES:SE:LP:AF:SS:ID -0.00213449:0.00318783:0.298316:0.87633:27583:rs3131970
1 753541 rs2073813 G A . PASS AF=0.128345 ES:SE:LP:AF:SS:ID 0.0034647:0.00313964:0.568948:0.128345:27583:rs2073813
1 754105 rs12184325 C T . PASS AF=0.0365805 ES:SE:LP:AF:SS:ID 0.00750724:0.00569609:0.726938:0.0365805:27583:rs12184325
1 754182 rs3131969 A G . PASS AF=0.871139 ES:SE:LP:AF:SS:ID -0.00380208:0.00313227:0.648167:0.871139:27583:rs3131969
1 754192 rs3131968 A G . PASS AF=0.871234 ES:SE:LP:AF:SS:ID -0.00359801:0.00313318:0.600619:0.871234:27583:rs3131968
1 754334 rs3131967 T C . PASS AF=0.871125 ES:SE:LP:AF:SS:ID -0.00380452:0.00313202:0.648815:0.871125:27583:rs3131967
1 755890 rs3115858 A T . PASS AF=0.871121 ES:SE:LP:AF:SS:ID -0.00376842:0.00312798:0.641471:0.871121:27583:rs3115858
1 756434 rs61768170 G C . PASS AF=0.125557 ES:SE:LP:AF:SS:ID 0.00328403:0.00319133:0.517889:0.125557:27583:rs61768170
1 756604 rs3131962 A G . PASS AF=0.870699 ES:SE:LP:AF:SS:ID -0.00377261:0.00312123:0.644374:0.870699:27583:rs3131962
1 757640 rs3115853 G A . PASS AF=0.870017 ES:SE:LP:AF:SS:ID -0.00375638:0.00311731:0.641663:0.870017:27583:rs3115853
1 757734 rs4951929 C T . PASS AF=0.870903 ES:SE:LP:AF:SS:ID -0.00388163:0.00312416:0.669426:0.870903:27583:rs4951929
1 757936 rs4951862 C A . PASS AF=0.870912 ES:SE:LP:AF:SS:ID -0.0038811:0.00312441:0.669225:0.870912:27583:rs4951862
1 758144 rs3131956 A G . PASS AF=0.870912 ES:SE:LP:AF:SS:ID -0.00388023:0.00312437:0.669029:0.870912:27583:rs3131956
1 758626 rs3131954 C T . PASS AF=0.871332 ES:SE:LP:AF:SS:ID -0.00373227:0.00313189:0.631916:0.871332:27583:rs3131954
1 759293 rs10157329 T A . PASS AF=0.0978378 ES:SE:LP:AF:SS:ID 0.00267274:0.00365043:0.333416:0.0978378:27583:rs10157329
1 759600 rs545998451 AGT A . PASS AF=0.00629586 ES:SE:LP:AF:SS:ID 0.0146443:0.0143934:0.510103:0.00629586:27583:1_759600_AGT_A
1 759837 rs3115851 T A . PASS AF=0.875526 ES:SE:LP:AF:SS:ID -0.00259064:0.00317941:0.381758:0.875526:27583:rs3115851
1 761732 rs2286139 C T . PASS AF=0.864818 ES:SE:LP:AF:SS:ID -0.00407509:0.0031174:0.718619:0.864818:27583:rs2286139
1 761752 rs1057213 C T . PASS AF=0.870067 ES:SE:LP:AF:SS:ID -0.00377294:0.00314907:0.636608:0.870067:27583:rs1057213
1 762273 rs3115849 G A . PASS AF=0.866746 ES:SE:LP:AF:SS:ID -0.00354482:0.00314803:0.584764:0.866746:27583:rs3115849
1 762485 rs12095200 C A . PASS AF=0.0982305 ES:SE:LP:AF:SS:ID 0.0022187:0.00376442:0.255232:0.0982305:27583:rs12095200
1 762589 rs3115848 G C . PASS AF=0.872339 ES:SE:LP:AF:SS:ID -0.00220291:0.00318593:0.310435:0.872339:27583:rs3115848
1 762592 rs3131950 C G . PASS AF=0.872339 ES:SE:LP:AF:SS:ID -0.00220287:0.00318593:0.310428:0.872339:27583:rs3131950
1 762601 rs3131949 T C . PASS AF=0.872354 ES:SE:LP:AF:SS:ID -0.00221652:0.00318659:0.31274:0.872354:27583:rs3131949
1 762632 rs3131948 T A . PASS AF=0.87266 ES:SE:LP:AF:SS:ID -0.00211145:0.00318819:0.294306:0.87266:27583:rs3131948
1 764191 rs7515915 T G . PASS AF=0.125094 ES:SE:LP:AF:SS:ID 0.00303535:0.0031857:0.467632:0.125094:27583:rs7515915
1 766007 rs61768174 A C . PASS AF=0.104772 ES:SE:LP:AF:SS:ID 0.0032789:0.00347593:0.461517:0.104772:27583:rs61768174
1 766105 rs2519015 T A . PASS AF=0.855328 ES:SE:LP:AF:SS:ID -0.00363605:0.00311494:0.614211:0.855328:27583:rs2519015
1 768116 rs376645387 A AGTTTT . PASS AF=0.835305 ES:SE:LP:AF:SS:ID -0.00443637:0.00305818:0.833014:0.835305:27583:rs376645387
1 768253 rs2977608 A C . PASS AF=0.761034 ES:SE:LP:AF:SS:ID -0.00422975:0.00247222:1.05994:0.761034:27583:rs2977608
1 768448 rs12562034 G A . PASS AF=0.108726 ES:SE:LP:AF:SS:ID 0.0033263:0.00338314:0.487425:0.108726:27583:rs12562034
1 768819 rs12562811 C T . PASS AF=0.00755971 ES:SE:LP:AF:SS:ID 0.0207003:0.0128644:0.968176:0.00755971:27583:rs12562811
1 769138 rs59306077 CAT C . PASS AF=0.128631 ES:SE:LP:AF:SS:ID 0.00372395:0.00314088:0.627502:0.128631:27583:rs762168062
1 769223 rs60320384 C G . PASS AF=0.128284 ES:SE:LP:AF:SS:ID 0.00359816:0.00313732:0.599573:0.128284:27583:rs60320384
1 769963 rs7518545 G A . PASS AF=0.108004 ES:SE:LP:AF:SS:ID 0.00340327:0.00340764:0.497655:0.108004:27583:rs7518545
1 770181 rs146076599 A G . PASS AF=0.00901443 ES:SE:LP:AF:SS:ID -0.0116858:0.012168:0.472526:0.00901443:27583:rs146076599
1 770377 rs112563271 A T . PASS AF=0.00756448 ES:SE:LP:AF:SS:ID 0.018506:0.0129221:0.817814:0.00756448:27583:rs112563271