{
"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-85,TotalVariants=1982482,VariantsNotRead=0,HarmonisedVariants=1982482,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-85/ieu-a-85_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2020-02-04T08:24:02.880525",
"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-85/ieu-a-85.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-85/ieu-a-85_data.vcf.gz; Date=Tue Feb 4 19:49:57 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-85/ieu-a-85.vcf.gz; Date=Sun May 10 11:46:42 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-85/ieu-a-85.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-85/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/
Beginning analysis at Tue Feb 4 20:52:49 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-85/ieu-a-85.vcf.gz ...
Read summary statistics for 1982482 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, 975764 SNPs remain.
After merging with regression SNP LD, 975764 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.6135 (0.0404)
Lambda GC: 1.039
Mean Chi^2: 1.0618
Intercept: 0.8885 (0.0077)
Ratio < 0 (usually indicates GC correction).
Analysis finished at Tue Feb 4 20:53:15 2020
Total time elapsed: 25.94s
{
"af_correlation": 0.8843,
"inflation_factor": 1.0475,
"mean_EFFECT": -0.0003,
"n": 16068,
"n_snps": 1982482,
"n_clumped_hits": 7,
"n_p_sig": 228,
"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": 2065,
"n_miss_AF_reference": 15984,
"n_est": 15515.6914,
"ratio_se_n": 0.9827,
"mean_diff": 0.0002,
"ratio_diff": 18.9512,
"sd_y_est1": 2.4466,
"sd_y_est2": 2.4042,
"r2_sum1": 0.1401,
"r2_sum2": 0.0234,
"r2_sum3": 0.0242,
"r2_sum4": 0.0234,
"ldsc_nsnp_merge_refpanel_ld": 975764,
"ldsc_nsnp_merge_regression_ld": 975764,
"ldsc_observed_scale_h2_beta": 0.6135,
"ldsc_observed_scale_h2_se": 0.0404,
"ldsc_intercept_beta": 0.8885,
"ldsc_intercept_se": 0.0077,
"ldsc_lambda_gc": 1.039,
"ldsc_mean_chisq": 1.0618,
"ldsc_ratio": -1.8042
}
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 | 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 | 42 | 0 | 1982482 | 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 | 8.574015e+00 | 5.653941e+00 | 1.0000e+00 | 4.000000e+00 | 8.000000e+00 | 1.200000e+01 | 2.300000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.884663e+07 | 5.574042e+07 | 1.2183e+04 | 3.254331e+07 | 7.019551e+07 | 1.145245e+08 | 2.491722e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | -2.962000e-04 | 3.756700e-02 | -2.7000e-01 | -2.300000e-02 | -3.000000e-04 | 2.300000e-02 | 3.500000e-01 | ▁▃▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.544330e-02 | 1.130700e-02 | 2.5000e-02 | 2.700000e-02 | 3.100000e-02 | 4.100000e-02 | 1.200000e-01 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.930532e-01 | 2.909072e-01 | 0.0000e+00 | 2.399999e-01 | 4.899999e-01 | 7.499995e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.927803e-01 | 2.909963e-01 | 0.0000e+00 | 2.385689e-01 | 4.904111e-01 | 7.454268e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 2065 | 0.9989584 | NA | NA | NA | NA | NA | 3.971520e-01 | 2.425215e-01 | 8.0000e-03 | 1.860000e-01 | 3.500000e-01 | 5.830000e-01 | 9.920000e-01 | ▇▇▆▅▂ |
numeric | AF_reference | 15984 | 0.9919374 | NA | NA | NA | NA | NA | 3.944460e-01 | 2.321403e-01 | 1.9970e-04 | 2.008790e-01 | 3.510380e-01 | 5.674920e-01 | 1.000000e+00 | ▆▇▆▃▂ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.333642e+04 | 2.359199e+03 | 7.9949e+03 | 1.143500e+04 | 1.412150e+04 | 1.545580e+04 | 1.606800e+04 | ▂▂▂▃▇ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 990380 | rs3121561 | C | T | 0.0067 | 0.046 | 0.8800001 | 0.8841960 | 0.267 | 0.343450 | 11563.80 |
1 | 998501 | rs3813193 | G | C | 0.0580 | 0.048 | 0.2300001 | 0.2269191 | 0.150 | 0.206669 | 9809.49 |
1 | 1003629 | rs4075116 | C | T | 0.0700 | 0.035 | 0.0479999 | 0.0455003 | 0.737 | 0.720647 | 13988.60 |
1 | 1005806 | rs3934834 | C | T | 0.0520 | 0.047 | 0.2700001 | 0.2685608 | 0.119 | 0.223442 | 9281.00 |
1 | 1017170 | rs3766193 | C | G | 0.0130 | 0.032 | 0.6800001 | 0.6845589 | 0.569 | 0.575479 | 15278.30 |
1 | 1017197 | rs3766192 | C | T | 0.0140 | 0.030 | 0.6400000 | 0.6407384 | 0.576 | 0.511182 | 15340.40 |
1 | 1017587 | rs3766191 | C | T | 0.0620 | 0.051 | 0.2200002 | 0.2241045 | 0.096 | 0.171126 | 8981.86 |
1 | 1018562 | rs9442371 | C | T | 0.0140 | 0.030 | 0.6400000 | 0.6407384 | 0.592 | 0.530152 | 15356.60 |
1 | 1018704 | rs9442372 | A | G | 0.0150 | 0.030 | 0.6200004 | 0.6170751 | 0.602 | 0.611022 | 15356.50 |
1 | 1021346 | rs10907177 | A | G | 0.0600 | 0.053 | 0.2500000 | 0.2576027 | 0.127 | 0.178914 | 8885.03 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 51158017 | rs6010065 | G | C | 0.0160 | 0.026 | 0.5400003 | 0.5383007 | 0.442 | 0.5475240 | 15139.3 |
22 | 51162059 | rs10451 | G | A | 0.0086 | 0.035 | 0.8100000 | 0.8059034 | 0.284 | 0.3865810 | 10317.7 |
22 | 51163138 | rs715586 | C | T | 0.0130 | 0.044 | 0.7700005 | 0.7676467 | 0.150 | 0.0902556 | 10548.0 |
22 | 51165664 | rs8137951 | G | A | 0.0170 | 0.030 | 0.5700002 | 0.5709407 | 0.275 | 0.4063500 | 14617.0 |
22 | 51171693 | rs756638 | G | A | -0.0500 | 0.036 | 0.1600000 | 0.1648665 | 0.283 | 0.3049120 | 11470.0 |
22 | 51212875 | rs2238837 | A | C | 0.0370 | 0.047 | 0.4299995 | 0.4311449 | 0.392 | 0.3724040 | 8665.0 |
22 | 51217134 | rs117417021 | A | G | 0.0340 | 0.047 | 0.4700002 | 0.4694316 | 0.442 | 0.2671730 | 8491.0 |
23 | 35921591 | rs2204667 | C | G | 0.0340 | 0.041 | 0.4000000 | 0.4069526 | 0.167 | NA | 11453.0 |
23 | 70163799 | rs1626496 | A | C | -0.1100 | 0.065 | 0.0800000 | 0.0905873 | 0.075 | NA | 8054.7 |
23 | 118495837 | rs12882977 | G | A | 0.0099 | 0.025 | 0.6999999 | 0.6921050 | 0.509 | 0.2307280 | 15893.0 |
1 990380 rs3121561 C T . PASS AF=0.267 ES:SE:LP:AF:SS:ID 0.0067:0.046:0.0555173:0.267:11563.8:rs3121561
1 998501 rs3813193 G C . PASS AF=0.15 ES:SE:LP:AF:SS:ID 0.058:0.048:0.638272:0.15:9809.49:rs3813193
1 1003629 rs4075116 C T . PASS AF=0.737 ES:SE:LP:AF:SS:ID 0.07:0.035:1.31876:0.737:13988.6:rs4075116
1 1005806 rs3934834 C T . PASS AF=0.119 ES:SE:LP:AF:SS:ID 0.052:0.047:0.568636:0.119:9281:rs3934834
1 1017170 rs3766193 C G . PASS AF=0.569 ES:SE:LP:AF:SS:ID 0.013:0.032:0.167491:0.569:15278.3:rs3766193
1 1017197 rs3766192 C T . PASS AF=0.576 ES:SE:LP:AF:SS:ID 0.014:0.03:0.19382:0.576:15340.4:rs3766192
1 1017587 rs3766191 C T . PASS AF=0.096 ES:SE:LP:AF:SS:ID 0.062:0.051:0.657577:0.096:8981.86:rs3766191
1 1018562 rs9442371 C T . PASS AF=0.592 ES:SE:LP:AF:SS:ID 0.014:0.03:0.19382:0.592:15356.6:rs9442371
1 1018704 rs9442372 A G . PASS AF=0.602 ES:SE:LP:AF:SS:ID 0.015:0.03:0.207608:0.602:15356.5:rs9442372
1 1021346 rs10907177 A G . PASS AF=0.127 ES:SE:LP:AF:SS:ID 0.06:0.053:0.60206:0.127:8885.03:rs10907177
1 1021415 rs3737728 A G . PASS AF=0.717 ES:SE:LP:AF:SS:ID 0.048:0.033:0.853872:0.717:14365:rs3737728
1 1021583 rs10907178 A C . PASS AF=0.113 ES:SE:LP:AF:SS:ID 0.065:0.053:0.657577:0.113:8888.84:rs10907178
1 1021695 rs9442398 A G . PASS AF=0.725 ES:SE:LP:AF:SS:ID 0.044:0.034:0.721246:0.725:14216.5:rs9442398
1 1022037 rs6701114 C T . PASS AF=0.567 ES:SE:LP:AF:SS:ID -0.0065:0.032:0.0757207:0.567:14053.3:rs6701114
1 1026707 rs4074137 C A . PASS AF=0.6 ES:SE:LP:AF:SS:ID -0.058:0.035:1.01773:0.6:11221.8:rs4074137
1 1030565 rs6687776 C T . PASS AF=0.083 ES:SE:LP:AF:SS:ID 0.04:0.048:0.387216:0.083:8526:rs6687776
1 1031540 rs9651273 A G . PASS AF=0.658 ES:SE:LP:AF:SS:ID -0.021:0.036:0.259637:0.658:10777:rs9651273
1 1036959 rs11579015 T C . PASS AF=0.05 ES:SE:LP:AF:SS:ID 0.14:0.064:1.61979:0.05:8083:rs11579015
1 1040026 rs6671356 T C . PASS AF=0.075 ES:SE:LP:AF:SS:ID 0.076:0.054:0.79588:0.075:8674.7:rs6671356
1 1046164 rs6666280 C T . PASS AF=0.067 ES:SE:LP:AF:SS:ID 0.081:0.053:0.886057:0.067:9331.9:rs6666280
1 1048955 rs4970405 A G . PASS AF=0.052 ES:SE:LP:AF:SS:ID 0.15:0.063:1.74473:0.052:8296:rs4970405
1 1049950 rs12726255 A G . PASS AF=0.067 ES:SE:LP:AF:SS:ID 0.073:0.052:0.769551:0.067:9329:rs12726255
1 1053452 rs4970409 G A . PASS AF=0.05 ES:SE:LP:AF:SS:ID 0.14:0.062:1.65758:0.05:8464.9:rs4970409
1 1060174 rs7548798 C T . PASS AF=0.398 ES:SE:LP:AF:SS:ID -0.024:0.046:0.221849:0.398:8386.79:rs7548798
1 1060608 rs17160824 G A . PASS AF=0.058 ES:SE:LP:AF:SS:ID 0.15:0.062:1.76955:0.058:8669:rs17160824
1 1061115 rs17160826 T C . PASS AF=0.055 ES:SE:LP:AF:SS:ID 0.15:0.063:1.67778:0.055:8464.7:rs17160826
1 1061152 rs12748370 T C . PASS AF=0.05 ES:SE:LP:AF:SS:ID 0.15:0.064:1.72125:0.05:8464.8:rs12748370
1 1061166 rs11807848 T C . PASS AF=0.412 ES:SE:LP:AF:SS:ID 0.03:0.037:0.387216:0.412:10549.2:rs11807848
1 1062638 rs9442373 C A . PASS AF=0.552 ES:SE:LP:AF:SS:ID -0.018:0.037:0.200659:0.552:10450.5:rs9442373
1 1064535 rs6682475 G C . PASS AF=0.754 ES:SE:LP:AF:SS:ID -0.096:0.05:1.26761:0.754:10001.2:rs6682475
1 1064979 rs2298217 C T . PASS AF=0.083 ES:SE:LP:AF:SS:ID -0.01:0.051:0.0757207:0.083:8303:rs2298217
1 1066403 rs10907182 T C . PASS AF=0.675 ES:SE:LP:AF:SS:ID 0.0033:0.041:0.0268721:0.675:9874.43:rs10907182
1 1071118 rs10907183 G C . PASS AF=0.683 ES:SE:LP:AF:SS:ID 0.0061:0.043:0.05061:0.683:9729.69:rs10907183
1 1077064 rs4970357 C A . PASS AF=0.924 ES:SE:LP:AF:SS:ID 0.026:0.078:0.130768:0.924:8095.3:rs4970357
1 1087683 rs9442380 T C . PASS AF=0.912 ES:SE:LP:AF:SS:ID -0.032:0.075:0.173925:0.912:8496.3:rs9442380
1 1106473 rs4970420 G A . PASS AF=0.144 ES:SE:LP:AF:SS:ID -0.17:0.05:3.10791:0.144:8149:rs4970420
1 1121794 rs11260549 G A . PASS AF=0.125 ES:SE:LP:AF:SS:ID -0.083:0.054:0.920819:0.125:8566:rs11260549
1 1124663 rs6684820 G A . PASS AF=0.267 ES:SE:LP:AF:SS:ID 0.013:0.034:0.161151:0.267:13702.5:rs6684820
1 1125553 rs10907174 A T . PASS AF=0.225 ES:SE:LP:AF:SS:ID 0.0017:0.037:0.0177288:0.225:12721.7:rs10907174
1 1129672 rs11260554 G T . PASS AF=0.125 ES:SE:LP:AF:SS:ID -0.091:0.054:1.02687:0.125:8566:rs11260554
1 1130727 rs10907175 A C . PASS AF=0.1 ES:SE:LP:AF:SS:ID 0.085:0.06:0.79588:0.1:8658.5:rs10907175
1 1135242 rs9729550 A C . PASS AF=0.275 ES:SE:LP:AF:SS:ID 0.011:0.033:0.124939:0.275:13770:rs9729550
1 1140435 rs1815606 G T . PASS AF=0.31 ES:SE:LP:AF:SS:ID 0.05:0.037:0.769551:0.31:10398.4:rs1815606
1 1152631 rs11721 C A . PASS AF=0.083 ES:SE:LP:AF:SS:ID -0.038:0.061:0.267606:0.083:8602:rs11721
1 1156131 rs2887286 T C . PASS AF=0.183 ES:SE:LP:AF:SS:ID 0.078:0.041:1.23657:0.183:10572:rs2887286
1 1158277 rs3813199 G A . PASS AF=0.1 ES:SE:LP:AF:SS:ID 0.015:0.059:0.102373:0.1:8944:rs3813199
1 1162435 rs3766186 C A . PASS AF=0.1 ES:SE:LP:AF:SS:ID 0.0086:0.058:0.0555173:0.1:9321:rs3766186
1 1163804 rs7515488 C T . PASS AF=0.15 ES:SE:LP:AF:SS:ID -0.014:0.045:0.124939:0.15:10895:rs7515488
1 1176597 rs6675798 T C . PASS AF=0.108 ES:SE:LP:AF:SS:ID 0.052:0.06:0.420216:0.108:9283:rs6675798
1 1181751 rs6603783 T C . PASS AF=0.1 ES:SE:LP:AF:SS:ID 0.045:0.062:0.327902:0.1:8910.9:rs6603783