{
"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-20554_1,TotalVariants=10169093,VariantsNotRead=0,HarmonisedVariants=10169093,VariantsNotHarmonised=0,SwitchedAlleles=211,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-20554_1/ukb-d-20554_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": "2019-11-25T15:10:04.195949",
"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-20554_1/ukb-d-20554_1.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20554_1/ukb-d-20554_1_data.vcf.gz; Date=Mon Nov 25 15:36:45 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-20554_1/ukb-d-20554_1.vcf.gz; Date=Sun May 10 01:37:31 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-20554_1/ukb-d-20554_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-20554_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 16:50:22 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-20554_1/ukb-d-20554_1.vcf.gz ...
Read summary statistics for 10169093 SNPs.
Dropped 7928 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, 1279232 SNPs remain.
After merging with regression SNP LD, 1279232 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.013 (0.0038)
Lambda GC: 1.0407
Mean Chi^2: 1.0359
Intercept: 1.006 (0.0062)
Ratio: 0.1664 (0.1731)
Analysis finished at Mon Nov 25 16:52:05 2019
Total time elapsed: 1.0m:42.51s
{
"af_correlation": 0.9425,
"inflation_factor": 1.0296,
"mean_EFFECT": 1.064e-06,
"n": 117733,
"n_snps": 10169093,
"n_clumped_hits": 0,
"n_p_sig": 0,
"n_mono": 0,
"n_ns": 1093186,
"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": 200410,
"n_est": 117762.6461,
"ratio_se_n": 1.0001,
"mean_diff": 9.062e-06,
"ratio_diff": 7.4914,
"sd_y_est1": 0.1193,
"sd_y_est2": 0.1193,
"r2_sum1": 0,
"r2_sum2": 0,
"r2_sum3": 0,
"r2_sum4": 0,
"ldsc_nsnp_merge_refpanel_ld": 1279232,
"ldsc_nsnp_merge_regression_ld": 1279232,
"ldsc_observed_scale_h2_beta": 0.013,
"ldsc_observed_scale_h2_se": 0.0038,
"ldsc_intercept_beta": 1.006,
"ldsc_intercept_se": 0.0062,
"ldsc_lambda_gc": 1.0407,
"ldsc_mean_chisq": 1.0359,
"ldsc_ratio": 0.1671
}
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 | 10161722 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 100 | 0 | 48731 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 342 | 0 | 30368 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.079617e+00 | 6.178065e+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 | 7.876667e+07 | 5.606880e+07 | 3.02000e+02 | 3.251207e+07 | 6.968196e+07 | 1.147236e+08 | 2.492297e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.100000e-06 | 1.241100e-03 | -1.11752e-02 | -5.668000e-04 | -7.300000e-06 | 5.535000e-04 | 1.278750e-02 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.045500e-03 | 6.563000e-04 | 4.07500e-04 | 5.434000e-04 | 7.480000e-04 | 1.359500e-03 | 3.783400e-03 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.956743e-01 | 2.898467e-01 | 3.00000e-07 | 2.430620e-01 | 4.937294e-01 | 7.468304e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.956729e-01 | 2.898475e-01 | 3.00000e-07 | 2.430598e-01 | 4.937270e-01 | 7.468303e-01 | 9.999999e-01 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.507319e-01 | 2.629242e-01 | 7.38340e-03 | 3.566540e-02 | 1.437150e-01 | 4.004710e-01 | 9.926160e-01 | ▇▂▂▁▁ |
numeric | AF_reference | 200410 | 0.9802922 | NA | NA | NA | NA | NA | 2.504648e-01 | 2.537849e-01 | 0.00000e+00 | 3.893770e-02 | 1.601440e-01 | 3.969650e-01 | 1.000000e+00 | ▇▃▂▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.177330e+05 | 0.000000e+00 | 1.17733e+05 | 1.177330e+05 | 1.177330e+05 | 1.177330e+05 | 1.177330e+05 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 692794 | rs530212009 | CA | C | -0.0010018 | 0.0008567 | 0.2422942 | 0.2422912 | 0.1117700 | 0.1894970 | 117733 |
1 | 693731 | rs12238997 | A | G | -0.0006122 | 0.0008114 | 0.4505355 | 0.4505340 | 0.1167970 | 0.1417730 | 117733 |
1 | 707522 | rs371890604 | G | C | -0.0004155 | 0.0009103 | 0.6480925 | 0.6480915 | 0.0984203 | 0.1293930 | 117733 |
1 | 717587 | rs144155419 | G | A | -0.0010237 | 0.0021815 | 0.6388737 | 0.6388746 | 0.0157696 | 0.0045926 | 117733 |
1 | 730087 | rs148120343 | T | C | -0.0004322 | 0.0011290 | 0.7018544 | 0.7018535 | 0.0569438 | 0.0127796 | 117733 |
1 | 731718 | rs142557973 | T | C | -0.0006440 | 0.0007699 | 0.4028274 | 0.4028260 | 0.1227180 | 0.1543530 | 117733 |
1 | 732032 | rs61770163 | A | C | -0.0007602 | 0.0008205 | 0.3541474 | 0.3541447 | 0.1223370 | 0.1555510 | 117733 |
1 | 734349 | rs141242758 | T | C | -0.0005486 | 0.0007703 | 0.4763410 | 0.4763400 | 0.1219750 | 0.1525560 | 117733 |
1 | 749963 | rs529266287 | T | TAA | 0.0006266 | 0.0007590 | 0.4090120 | 0.4090109 | 0.8689330 | 0.7641770 | 117733 |
1 | 751343 | rs28544273 | T | A | -0.0005267 | 0.0007520 | 0.4836464 | 0.4836456 | 0.1237660 | 0.2426120 | 117733 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154923311 | rs141127553 | C | T | -0.0014060 | 0.0009054 | 0.1204229 | 0.1204205 | 0.0554864 | 0.0309934 | 117733 |
23 | 154923374 | rs111332691 | T | A | -0.0004536 | 0.0009869 | 0.6457821 | 0.6457817 | 0.0447750 | 0.0116556 | 117733 |
23 | 154925045 | rs509981 | C | T | 0.0014615 | 0.0004752 | 0.0021013 | 0.0021008 | 0.2447700 | 0.3634440 | 117733 |
23 | 154925895 | rs538470 | C | T | 0.0013664 | 0.0004859 | 0.0049232 | 0.0049225 | 0.2412000 | 0.3634440 | 117733 |
23 | 154927581 | rs644138 | G | A | 0.0009689 | 0.0004471 | 0.0302287 | 0.0302267 | 0.3006190 | 0.4635760 | 117733 |
23 | 154929412 | rs557132 | C | T | 0.0014796 | 0.0004753 | 0.0018526 | 0.0018521 | 0.2446450 | 0.3568210 | 117733 |
23 | 154929637 | rs35185538 | CT | C | 0.0015118 | 0.0004966 | 0.0023298 | 0.0023292 | 0.2288480 | 0.3011920 | 117733 |
23 | 154929952 | rs4012982 | CAA | C | 0.0014883 | 0.0005002 | 0.0029287 | 0.0029283 | 0.2387180 | 0.3165560 | 117733 |
23 | 154930230 | rs781880 | A | G | 0.0014558 | 0.0004752 | 0.0021858 | 0.0021854 | 0.2450680 | 0.3618540 | 117733 |
23 | 154930487 | rs781879 | T | A | 0.0048121 | 0.0016150 | 0.0028872 | 0.0028865 | 0.0196901 | 0.1263580 | 117733 |
1 692794 rs530212009 CA C . PASS AF=0.11177 ES:SE:LP:AF:SS:ID -0.00100176:0.000856733:0.615657:0.11177:117733:1_692794_CA_C
1 693731 rs12238997 A G . PASS AF=0.116797 ES:SE:LP:AF:SS:ID -0.000612202:0.000811374:0.346271:0.116797:117733:rs12238997
1 707522 rs371890604 G C . PASS AF=0.0984203 ES:SE:LP:AF:SS:ID -0.000415466:0.000910281:0.188363:0.0984203:117733:rs371890604
1 717587 rs144155419 G A . PASS AF=0.0157696 ES:SE:LP:AF:SS:ID -0.0010237:0.00218146:0.194585:0.0157696:117733:rs144155419
1 730087 rs148120343 T C . PASS AF=0.0569438 ES:SE:LP:AF:SS:ID -0.000432188:0.00112896:0.153753:0.0569438:117733:rs148120343
1 731718 rs58276399 T C . PASS AF=0.122718 ES:SE:LP:AF:SS:ID -0.000644049:0.000769855:0.394881:0.122718:117733:rs58276399
1 732032 rs61770163 A C . PASS AF=0.122337 ES:SE:LP:AF:SS:ID -0.000760219:0.000820457:0.450816:0.122337:117733:rs61770163
1 734349 rs141242758 T C . PASS AF=0.121975 ES:SE:LP:AF:SS:ID -0.000548581:0.000770261:0.322082:0.121975:117733:rs141242758
1 749963 rs529266287 T TAA . PASS AF=0.868933 ES:SE:LP:AF:SS:ID 0.000626616:0.00075895:0.388264:0.868933:117733:rs529266287
1 751343 rs28544273 T A . PASS AF=0.123766 ES:SE:LP:AF:SS:ID -0.000526712:0.000751961:0.315472:0.123766:117733:rs28544273
1 751488 rs200141114 G GA . PASS AF=0.1434 ES:SE:LP:AF:SS:ID -0.000199941:0.00074372:0.103444:0.1434:117733:rs200141114
1 751756 rs28527770 T C . PASS AF=0.123888 ES:SE:LP:AF:SS:ID -0.000526006:0.00075092:0.315489:0.123888:117733:rs28527770
1 753405 rs3115860 C A . PASS AF=0.869714 ES:SE:LP:AF:SS:ID 0.000514316:0.000731333:0.317046:0.869714:117733:rs3115860
1 753425 rs3131970 T C . PASS AF=0.874485 ES:SE:LP:AF:SS:ID 0.000332383:0.000743589:0.18384:0.874485:117733:rs3131970
1 753541 rs2073813 G A . PASS AF=0.129745 ES:SE:LP:AF:SS:ID -0.000497472:0.000733381:0.303149:0.129745:117733:rs2073813
1 754105 rs12184325 C T . PASS AF=0.0365403 ES:SE:LP:AF:SS:ID -0.00332713:0.00133192:1.90339:0.0365403:117733:rs12184325
1 754182 rs3131969 A G . PASS AF=0.869307 ES:SE:LP:AF:SS:ID 0.000459005:0.000730638:0.27584:0.869307:117733:rs3131969
1 754192 rs3131968 A G . PASS AF=0.869378 ES:SE:LP:AF:SS:ID 0.00044922:0.000730909:0.268559:0.869378:117733:rs3131968
1 754334 rs3131967 T C . PASS AF=0.869306 ES:SE:LP:AF:SS:ID 0.000457172:0.000730619:0.274503:0.869306:117733:rs3131967
1 755890 rs3115858 A T . PASS AF=0.86938 ES:SE:LP:AF:SS:ID 0.000514676:0.000729274:0.31844:0.86938:117733:rs3115858
1 756434 rs61768170 G C . PASS AF=0.127028 ES:SE:LP:AF:SS:ID -0.000587878:0.000744397:0.366852:0.127028:117733:rs61768170
1 756604 rs3131962 A G . PASS AF=0.868903 ES:SE:LP:AF:SS:ID 0.000533261:0.000727361:0.333977:0.868903:117733:rs3131962
1 757640 rs3115853 G A . PASS AF=0.868299 ES:SE:LP:AF:SS:ID 0.000413895:0.000727078:0.244749:0.868299:117733:rs3115853
1 757734 rs4951929 C T . PASS AF=0.869089 ES:SE:LP:AF:SS:ID 0.000541884:0.000728078:0.340354:0.869089:117733:rs4951929
1 757936 rs4951862 C A . PASS AF=0.869096 ES:SE:LP:AF:SS:ID 0.00054195:0.00072813:0.340375:0.869096:117733:rs4951862
1 758144 rs3131956 A G . PASS AF=0.869098 ES:SE:LP:AF:SS:ID 0.000541992:0.000728133:0.340406:0.869098:117733:rs3131956
1 758626 rs3131954 C T . PASS AF=0.869534 ES:SE:LP:AF:SS:ID 0.000510901:0.000729999:0.315143:0.869534:117733:rs3131954
1 759293 rs10157329 T A . PASS AF=0.0996366 ES:SE:LP:AF:SS:ID -0.000512081:0.000848559:0.262651:0.0996366:117733:rs10157329
1 759837 rs3115851 T A . PASS AF=0.873583 ES:SE:LP:AF:SS:ID 0.000469974:0.000741152:0.279008:0.873583:117733:rs3115851
1 761732 rs2286139 C T . PASS AF=0.862878 ES:SE:LP:AF:SS:ID 0.000393411:0.000726891:0.230361:0.862878:117733:rs2286139
1 761752 rs1057213 C T . PASS AF=0.868273 ES:SE:LP:AF:SS:ID 0.000662735:0.000733867:0.435939:0.868273:117733:rs1057213
1 762273 rs3115849 G A . PASS AF=0.865286 ES:SE:LP:AF:SS:ID 0.000652618:0.000733967:0.427226:0.865286:117733:rs3115849
1 762485 rs12095200 C A . PASS AF=0.0998136 ES:SE:LP:AF:SS:ID -0.000521173:0.000877064:0.257775:0.0998136:117733:rs12095200
1 762589 rs3115848 G C . PASS AF=0.870572 ES:SE:LP:AF:SS:ID 0.000527979:0.000742622:0.321384:0.870572:117733:rs3115848
1 762592 rs3131950 C G . PASS AF=0.870572 ES:SE:LP:AF:SS:ID 0.000527983:0.000742622:0.321387:0.870572:117733:rs3131950
1 762601 rs3131949 T C . PASS AF=0.870571 ES:SE:LP:AF:SS:ID 0.000528005:0.000742623:0.321404:0.870571:117733:rs3131949
1 762632 rs3131948 T A . PASS AF=0.870892 ES:SE:LP:AF:SS:ID 0.000501755:0.000742937:0.301513:0.870892:117733:rs3131948
1 764191 rs7515915 T G . PASS AF=0.126623 ES:SE:LP:AF:SS:ID -0.000637451:0.000743575:0.407498:0.126623:117733:rs7515915
1 766007 rs61768174 A C . PASS AF=0.106376 ES:SE:LP:AF:SS:ID -0.000532643:0.00080814:0.292571:0.106376:117733:rs61768174
1 766105 rs2519015 T A . PASS AF=0.854328 ES:SE:LP:AF:SS:ID 0.000290982:0.00072671:0.161872:0.854328:117733:rs2519015
1 768116 rs376645387 A AGTTTT . PASS AF=0.839072 ES:SE:LP:AF:SS:ID -0.000963336:0.00072016:0.742305:0.839072:117733:rs376645387
1 768253 rs2977608 A C . PASS AF=0.762955 ES:SE:LP:AF:SS:ID -0.000228874:0.000577184:0.160075:0.762955:117733:rs2977608
1 768448 rs12562034 G A . PASS AF=0.105259 ES:SE:LP:AF:SS:ID 0.000835086:0.000798529:0.5292:0.105259:117733:rs12562034
1 768819 rs12562811 C T . PASS AF=0.00772744 ES:SE:LP:AF:SS:ID -0.00184296:0.00295021:0.273943:0.00772744:117733:rs12562811
1 769138 rs59306077 CAT C . PASS AF=0.130028 ES:SE:LP:AF:SS:ID -0.000758582:0.000732996:0.521845:0.130028:117733:rs762168062
1 769223 rs60320384 C G . PASS AF=0.12973 ES:SE:LP:AF:SS:ID -0.000615734:0.000732113:0.397583:0.12973:117733:rs60320384
1 769963 rs7518545 G A . PASS AF=0.104502 ES:SE:LP:AF:SS:ID 0.000888542:0.000804794:0.56933:0.104502:117733:rs7518545
1 770181 rs146076599 A G . PASS AF=0.00918492 ES:SE:LP:AF:SS:ID 2.57934e-05:0.00281302:0.00318898:0.00918492:117733:rs146076599
1 770377 rs112563271 A T . PASS AF=0.00774957 ES:SE:LP:AF:SS:ID -0.00181517:0.00296278:0.267524:0.00774957:117733:rs112563271
1 770886 rs371458725 G A . PASS AF=0.103549 ES:SE:LP:AF:SS:ID 0.000854059:0.000811498:0.53373:0.103549:117733:rs371458725