{
"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=ieu-a-299,TotalVariants=2424035,VariantsNotRead=0,HarmonisedVariants=2424035,VariantsNotHarmonised=0,SwitchedAlleles=0,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/ieu-a-import/processed/ieu-a-299/ieu-a-299_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2020-02-04T09:41:09.619332",
"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/ieu-a-import/processed/ieu-a-299/ieu-a-299.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-299/ieu-a-299_data.vcf.gz; Date=Tue Feb 4 19:40:41 2020",
"bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ieu-a-299/ieu-a-299.vcf.gz; Date=Sun May 10 03:16:04 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/ieu-a-import/processed/ieu-a-299/ieu-a-299.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/ieu-a-import/processed/ieu-a-299/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/
Beginning analysis at Wed Feb 5 10:57:00 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-299/ieu-a-299.vcf.gz ...
Read summary statistics for 2424035 SNPs.
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, 1132846 SNPs remain.
After merging with regression SNP LD, 1132846 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.2575 (0.0543)
Lambda GC: 1.1563
Mean Chi^2: 1.3765
Intercept: 0.975 (0.009)
Ratio < 0 (usually indicates GC correction).
Analysis finished at Wed Feb 5 10:57:29 2020
Total time elapsed: 29.27s
{
"af_correlation": 0.9292,
"inflation_factor": 1.0145,
"mean_EFFECT": 0,
"n": 187167,
"n_snps": 2424035,
"n_clumped_hits": 89,
"n_p_sig": 3481,
"n_mono": 0,
"n_ns": 0,
"n_mac": 0,
"is_snpid_unique": true,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 367263,
"n_miss_AF_reference": 19261,
"n_est": 185644.9537,
"ratio_se_n": 0.9959,
"mean_diff": -0,
"ratio_diff": 13.0049,
"sd_y_est1": 1.4865,
"sd_y_est2": 1.4804,
"r2_sum1": 0.0646,
"r2_sum2": 0.0293,
"r2_sum3": 0.0295,
"r2_sum4": 0.0554,
"ldsc_nsnp_merge_refpanel_ld": 1132846,
"ldsc_nsnp_merge_regression_ld": 1132846,
"ldsc_observed_scale_h2_beta": 0.2575,
"ldsc_observed_scale_h2_se": 0.0543,
"ldsc_intercept_beta": 0.975,
"ldsc_intercept_se": 0.009,
"ldsc_lambda_gc": 1.1563,
"ldsc_mean_chisq": 1.3765,
"ldsc_ratio": -0.0664
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | FALSE |
n | FALSE |
is_snpid_non_unique | FALSE |
mean_EFFECT_nonfinite | FALSE |
mean_EFFECT_05 | FALSE |
mean_EFFECT_01 | FALSE |
mean_chisq | TRUE |
n_p_sig | TRUE |
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 | 34 | 0 | 2424035 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.583903e+00 | 5.647909e+00 | 1.0000e+00 | 4.000000e+00 | 8.000000e+00 | 1.200000e+01 | 2.20000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.873718e+07 | 5.563919e+07 | 1.1523e+04 | 3.253019e+07 | 7.008342e+07 | 1.141110e+08 | 2.49219e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.110000e-05 | 9.586800e-03 | -3.0710e-01 | -4.700000e-03 | 0.000000e+00 | 4.800000e-03 | 2.52800e-01 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.593900e-03 | 4.325800e-03 | 3.4000e-03 | 5.100000e-03 | 5.900000e-03 | 8.200000e-03 | 8.56000e-02 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.961791e-01 | 2.911754e-01 | 0.0000e+00 | 2.435998e-01 | 4.969000e-01 | 7.484004e-01 | 1.00000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.765754e-01 | 2.959455e-01 | 0.0000e+00 | 2.147015e-01 | 4.688144e-01 | 7.338565e-01 | 1.00000e+00 | ▇▇▆▆▆ |
numeric | AF | 367263 | 0.8484910 | NA | NA | NA | NA | NA | 3.563925e-01 | 2.699493e-01 | 1.3190e-03 | 1.240000e-01 | 2.902000e-01 | 5.515000e-01 | 9.98681e-01 | ▇▅▃▂▂ |
numeric | AF_reference | 19261 | 0.9920542 | NA | NA | NA | NA | NA | 3.594604e-01 | 2.553776e-01 | 0.0000e+00 | 1.451680e-01 | 2.967250e-01 | 5.427320e-01 | 1.00000e+00 | ▇▆▃▃▂ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.514778e+04 | 1.777230e+04 | 5.0000e+04 | 9.262000e+04 | 9.429400e+04 | 9.431100e+04 | 1.87167e+05 | ▁▇▁▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 721290 | rs12565286 | G | C | 0.0175 | 0.0188 | 0.4020999 | 0.3519306 | 0.04354 | 0.0371406 | 58663.6 |
1 | 752566 | rs3094315 | G | A | -0.0051 | 0.0086 | 0.6222000 | 0.5531656 | 0.83640 | 0.7182510 | 57135.0 |
1 | 775659 | rs2905035 | A | G | -0.0118 | 0.0098 | 0.1687998 | 0.2285580 | NA | 0.7450080 | 54570.0 |
1 | 777122 | rs2980319 | A | T | -0.0119 | 0.0099 | 0.1580000 | 0.2293557 | NA | 0.7472040 | 54570.0 |
1 | 779322 | rs4040617 | A | G | 0.0083 | 0.0101 | 0.2795001 | 0.4112009 | 0.12930 | 0.2264380 | 52828.0 |
1 | 785050 | rs2905062 | G | A | -0.0054 | 0.0070 | 0.3995002 | 0.4404529 | 0.86680 | 0.6269970 | 93322.0 |
1 | 785989 | rs2980300 | T | C | -0.0087 | 0.0097 | 0.2454997 | 0.3697684 | 0.84960 | 0.6269970 | 54393.0 |
1 | 990380 | rs3121561 | C | T | 0.0261 | 0.0103 | 0.0343700 | 0.0112775 | 0.29550 | 0.3434500 | 64740.0 |
1 | 998501 | rs3813193 | G | C | 0.0181 | 0.0110 | 0.1365001 | 0.0998761 | NA | 0.2066690 | 56178.0 |
1 | 1003629 | rs4075116 | C | T | 0.0011 | 0.0068 | 0.6773997 | 0.8714911 | 0.73610 | 0.7206470 | 80848.0 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 51151724 | rs6010061 | C | T | 0.0023 | 0.0059 | 0.6724005 | 0.6966619 | 0.42080 | 0.6098240 | 92817 |
22 | 51156933 | rs6010063 | A | G | -0.0022 | 0.0050 | 0.7780007 | 0.6599371 | 0.40770 | 0.4960060 | 90402 |
22 | 51158017 | rs6010065 | G | C | -0.0009 | 0.0049 | 0.9612001 | 0.8542696 | NA | 0.5475240 | 92096 |
22 | 51163138 | rs715586 | C | T | 0.0034 | 0.0052 | 0.7567998 | 0.5132109 | 0.12140 | 0.0902556 | 181860 |
22 | 51165664 | rs8137951 | G | A | 0.0014 | 0.0038 | 0.4960997 | 0.7125593 | 0.28100 | 0.4063500 | 184202 |
22 | 51171693 | rs756638 | G | A | 0.0111 | 0.0065 | 0.1863001 | 0.0876935 | 0.25990 | 0.3049120 | 83565 |
22 | 51175626 | rs3810648 | A | G | -0.0042 | 0.0101 | 0.6790004 | 0.6775259 | 0.05277 | 0.1084270 | 90377 |
22 | 51178090 | rs2285395 | G | A | -0.0053 | 0.0075 | 0.4979996 | 0.4797736 | 0.05145 | 0.0666933 | 177551 |
22 | 51196164 | rs8136603 | A | T | -0.0036 | 0.0125 | 0.6729999 | 0.7733467 | NA | 0.1427720 | 92096 |
22 | 51212875 | rs2238837 | A | C | -0.0035 | 0.0078 | 0.7878000 | 0.6536351 | 0.22690 | 0.3724040 | 74471 |
1 721290 rs12565286 G C . PASS AF=0.04354 ES:SE:LP:AF:SS:ID 0.0175:0.0188:0.395666:0.04354:58663.6:rs12565286
1 752566 rs3094315 G A . PASS AF=0.8364 ES:SE:LP:AF:SS:ID -0.0051:0.0086:0.20607:0.8364:57135:rs3094315
1 775659 rs2905035 A G . PASS . ES:SE:LP:SS:ID -0.0118:0.0098:0.772628:54570:rs2905035
1 777122 rs2980319 A T . PASS . ES:SE:LP:SS:ID -0.0119:0.0099:0.801343:54570:rs2980319
1 779322 rs4040617 A G . PASS AF=0.1293 ES:SE:LP:AF:SS:ID 0.0083:0.0101:0.553618:0.1293:52828:rs4040617
1 785050 rs2905062 G A . PASS AF=0.8668 ES:SE:LP:AF:SS:ID -0.0054:0.007:0.398483:0.8668:93322:rs2905062
1 785989 rs2980300 T C . PASS AF=0.8496 ES:SE:LP:AF:SS:ID -0.0087:0.0097:0.609949:0.8496:54393:rs2980300
1 990380 rs3121561 C T . PASS AF=0.2955 ES:SE:LP:AF:SS:ID 0.0261:0.0103:1.46382:0.2955:64740:rs3121561
1 998501 rs3813193 G C . PASS . ES:SE:LP:SS:ID 0.0181:0.011:0.864867:56178:rs3813193
1 1003629 rs4075116 C T . PASS AF=0.7361 ES:SE:LP:AF:SS:ID 0.0011:0.0068:0.169155:0.7361:80848:rs4075116
1 1005806 rs3934834 C T . PASS AF=0.1596 ES:SE:LP:AF:SS:ID 0.0116:0.0099:0.5157:0.1596:56178:rs3934834
1 1017170 rs3766193 C G . PASS . ES:SE:LP:SS:ID -0.0116:0.0065:1.30539:90312:rs3766193
1 1017197 rs3766192 C T . PASS AF=0.5488 ES:SE:LP:AF:SS:ID -0.0086:0.0062:0.980884:0.5488:90312:rs3766192
1 1017587 rs3766191 C T . PASS AF=0.1504 ES:SE:LP:AF:SS:ID 0.0186:0.0109:0.825068:0.1504:56178:rs3766191
1 1018562 rs9442371 C T . PASS AF=0.562 ES:SE:LP:AF:SS:ID -0.0073:0.0061:0.799697:0.562:90312:rs9442371
1 1018704 rs9442372 A G . PASS AF=0.562 ES:SE:LP:AF:SS:ID -0.0069:0.006:0.774949:0.562:90285:rs9442372
1 1021346 rs10907177 A G . PASS AF=0.1636 ES:SE:LP:AF:SS:ID 0.0197:0.0115:0.834756:0.1636:56178:rs10907177
1 1021415 rs3737728 A G . PASS AF=0.7203 ES:SE:LP:AF:SS:ID -0.0009:0.0062:0.258927:0.7203:89209:rs3737728
1 1021583 rs10907178 A C . PASS AF=0.157 ES:SE:LP:AF:SS:ID 0.0206:0.0112:0.88706:0.157:56178:rs10907178
1 1021695 rs9442398 A G . PASS AF=0.7203 ES:SE:LP:AF:SS:ID -0.0018:0.0065:0.369979:0.7203:90312:rs9442398
1 1022037 rs6701114 C T . PASS AF=0.5633 ES:SE:LP:AF:SS:ID -0.0134:0.0065:1.39567:0.5633:89434:rs6701114
1 1026707 rs4074137 C A . PASS AF=0.5976 ES:SE:LP:AF:SS:ID -0.0098:0.0071:0.578232:0.5976:59297:rs4074137
1 1030565 rs6687776 C T . PASS AF=0.1478 ES:SE:LP:AF:SS:ID 0.0186:0.0087:1.4608:0.1478:59297:rs6687776
1 1031540 rs9651273 A G . PASS AF=0.719 ES:SE:LP:AF:SS:ID -0.0054:0.007:0.184289:0.719:59297:rs9651273
1 1036959 rs11579015 T C . PASS AF=0.08971 ES:SE:LP:AF:SS:ID 0.0071:0.0104:0.164436:0.08971:74268:rs11579015
1 1040026 rs6671356 T C . PASS AF=0.1174 ES:SE:LP:AF:SS:ID 0.0108:0.0098:0.441892:0.1174:66427:rs6671356
1 1046164 rs6666280 C T . PASS AF=0.1174 ES:SE:LP:AF:SS:ID 0.01:0.0093:0.366835:0.1174:74268:rs6666280
1 1048955 rs4970405 A G . PASS AF=0.08443 ES:SE:LP:AF:SS:ID 0.0073:0.0101:0.155336:0.08443:76661:rs4970405
1 1049950 rs12726255 A G . PASS AF=0.1174 ES:SE:LP:AF:SS:ID 0.0102:0.0089:0.420559:0.1174:74268:rs12726255
1 1053452 rs4970409 G A . PASS AF=0.08839 ES:SE:LP:AF:SS:ID 0.0068:0.0104:0.153539:0.08839:74268:rs4970409
1 1060235 rs7540009 G A . PASS AF=0.0277 ES:SE:LP:AF:SS:ID 0.0282:0.0219:0.826231:0.0277:52219:rs7540009
1 1060608 rs17160824 G A . PASS AF=0.08707 ES:SE:LP:AF:SS:ID 0.0077:0.0104:0.166662:0.08707:74268:rs17160824
1 1061115 rs17160826 T C . PASS AF=0.08575 ES:SE:LP:AF:SS:ID 0.0078:0.0105:0.180719:0.08575:74268:rs17160826
1 1061152 rs12748370 T C . PASS AF=0.08575 ES:SE:LP:AF:SS:ID 0.0105:0.0104:0.284331:0.08575:74268:rs12748370
1 1061166 rs11807848 T C . PASS AF=0.3918 ES:SE:LP:AF:SS:ID 0.0128:0.0075:0.899285:0.3918:59297:rs11807848
1 1062015 rs9659914 C T . PASS AF=0.0277 ES:SE:LP:AF:SS:ID 0.0281:0.0238:0.760951:0.0277:52219:rs9659914
1 1062638 rs9442373 C A . PASS AF=0.5607 ES:SE:LP:AF:SS:ID -0.0149:0.0075:1.26257:0.5607:59297:rs9442373
1 1064535 rs6682475 G C . PASS . ES:SE:LP:SS:ID -0.0092:0.01:0.616903:59297:rs6682475
1 1064979 rs2298217 C T . PASS AF=0.1161 ES:SE:LP:AF:SS:ID 0.0101:0.0096:0.50724:0.1161:59297:rs2298217
1 1066029 rs12145826 G A . PASS AF=0.06596 ES:SE:LP:AF:SS:ID 0.0413:0.0183:1.09637:0.06596:50146:rs12145826
1 1066403 rs10907182 T C . PASS AF=0.5897 ES:SE:LP:AF:SS:ID -0.0131:0.0085:1.0364:0.5897:59297:rs10907182
1 1071118 rs10907183 G C . PASS . ES:SE:LP:SS:ID -0.0105:0.0089:0.775726:59297:rs10907183
1 1077064 rs4970357 C A . PASS AF=0.91161 ES:SE:LP:AF:SS:ID 0.0041:0.0108:0.017774:0.91161:78206:rs4970357
1 1087683 rs9442380 T C . PASS AF=0.93404 ES:SE:LP:AF:SS:ID 0.0068:0.0102:0.111821:0.93404:87863:rs9442380
1 1089262 rs4970358 A G . PASS AF=0.96702 ES:SE:LP:AF:SS:ID 0.0044:0.014:0.0723217:0.96702:86248:rs4970358
1 1094738 rs4970362 A G . PASS AF=0.6293 ES:SE:LP:AF:SS:ID -0.0003:0.0096:0.0380097:0.6293:55106:rs4970362
1 1097335 rs9442385 T G . PASS AF=0.93668 ES:SE:LP:AF:SS:ID 0.0056:0.0098:0.0684913:0.93668:87315:rs9442385
1 1099342 rs9660710 A C . PASS AF=0.93668 ES:SE:LP:AF:SS:ID 0.0058:0.0096:0.0820746:0.93668:88574:rs9660710
1 1100217 rs1891905 C T . PASS AF=0.94987 ES:SE:LP:AF:SS:ID 0.0046:0.015:0.0522723:0.94987:86248:rs1891905
1 1106473 rs4970420 G A . PASS AF=0.19 ES:SE:LP:AF:SS:ID -0.0033:0.0101:0.158203:0.19:59297:rs4970420