{
"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-785,TotalVariants=2476524,VariantsNotRead=0,HarmonisedVariants=2476524,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-785/ieu-a-785_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2020-02-04T08:27:31.831563",
"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-785/ieu-a-785.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-785/ieu-a-785_data.vcf.gz; Date=Tue Feb 4 18:49:32 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-785/ieu-a-785.vcf.gz; Date=Sun May 10 04:50:09 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-785/ieu-a-785.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-785/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 11:18:30 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-785/ieu-a-785.vcf.gz ...
Read summary statistics for 2476524 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, 1159137 SNPs remain.
After merging with regression SNP LD, 1159137 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.1635 (0.0084)
Lambda GC: 1.0421
Mean Chi^2: 1.1332
Intercept: 0.8072 (0.0068)
Ratio < 0 (usually indicates GC correction).
Analysis finished at Wed Feb 5 11:18:59 2020
Total time elapsed: 29.18s
{
"af_correlation": 0.9169,
"inflation_factor": 1.0446,
"mean_EFFECT": 0.0001,
"n": 152893,
"n_snps": 2476524,
"n_clumped_hits": 30,
"n_p_sig": 836,
"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": 11859,
"n_miss_AF_reference": 21191,
"n_est": 155740.7083,
"ratio_se_n": 1.0093,
"mean_diff": -0,
"ratio_diff": 11.0542,
"sd_y_est1": 1.3923,
"sd_y_est2": 1.4052,
"r2_sum1": 0.0155,
"r2_sum2": 0.008,
"r2_sum3": 0.0078,
"r2_sum4": 0.0123,
"ldsc_nsnp_merge_refpanel_ld": 1159137,
"ldsc_nsnp_merge_regression_ld": 1159137,
"ldsc_observed_scale_h2_beta": 0.1635,
"ldsc_observed_scale_h2_se": 0.0084,
"ldsc_intercept_beta": 0.8072,
"ldsc_intercept_se": 0.0068,
"ldsc_lambda_gc": 1.0421,
"ldsc_mean_chisq": 1.1332,
"ldsc_ratio": -1.4474
}
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 | 2476524 | 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 | 8.589901e+00 | 5.658608e+00 | 1.0000 | 4.000000e+00 | 8.000000e+00 | 1.200000e+01 | 2.30000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.884560e+07 | 5.566381e+07 | 11523.0000 | 3.268817e+07 | 7.027495e+07 | 1.143323e+08 | 2.49219e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.422000e-04 | 9.767500e-03 | -0.1954 | -4.800000e-03 | 1.000000e-04 | 4.900000e-03 | 2.04400e-01 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.286300e-03 | 5.575000e-03 | 0.0040 | 5.300000e-03 | 6.200000e-03 | 8.700000e-03 | 8.40000e-02 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.915145e-01 | 2.925487e-01 | 0.0000 | 2.366999e-01 | 4.906005e-01 | 7.440001e-01 | 1.00000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.915137e-01 | 2.925505e-01 | 0.0000 | 2.366771e-01 | 4.905673e-01 | 7.440229e-01 | 1.00000e+00 | ▇▇▇▇▇ |
numeric | AF | 11859 | 0.9952114 | NA | NA | NA | NA | NA | 3.568859e-01 | 2.753567e-01 | 0.0083 | 1.167000e-01 | 2.917000e-01 | 5.583000e-01 | 9.91700e-01 | ▇▅▃▂▂ |
numeric | AF_reference | 21191 | 0.9914432 | NA | NA | NA | NA | NA | 3.603152e-01 | 2.563056e-01 | 0.0000 | 1.447680e-01 | 2.977240e-01 | 5.447280e-01 | 1.00000e+00 | ▇▆▃▃▂ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.025234e+05 | 1.206757e+04 | 50000.7000 | 1.005120e+05 | 1.044250e+05 | 1.045900e+05 | 1.52893e+05 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 721290 | rs12565286 | G | C | 0.0051 | 0.0187 | 0.7858000 | 0.7850629 | 0.0678 | 0.0371406 | 54354.0 |
1 | 752566 | rs3094315 | G | A | -0.0122 | 0.0084 | 0.1464000 | 0.1463957 | 0.8448 | 0.7182510 | 66360.8 |
1 | 775659 | rs2905035 | A | G | -0.0113 | 0.0095 | 0.2342998 | 0.2342533 | 0.8750 | 0.7450080 | 70540.8 |
1 | 777122 | rs2980319 | A | T | -0.0117 | 0.0095 | 0.2181002 | 0.2181064 | 0.8750 | 0.7472040 | 71011.8 |
1 | 779322 | rs4040617 | A | G | 0.0134 | 0.0100 | 0.1802001 | 0.1802453 | 0.1250 | 0.2264380 | 65595.3 |
1 | 780785 | rs2977612 | T | A | -0.0119 | 0.0101 | 0.2386998 | 0.2387098 | 0.8661 | 0.6693290 | 65191.5 |
1 | 785050 | rs2905062 | G | A | -0.0099 | 0.0078 | 0.2057998 | 0.2043588 | NA | 0.6269970 | 93030.6 |
1 | 785989 | rs2980300 | T | C | -0.0108 | 0.0098 | 0.2704002 | 0.2704439 | 0.8729 | 0.6269970 | 65613.7 |
1 | 798959 | rs11240777 | G | A | 0.0133 | 0.0106 | 0.2095999 | 0.2095815 | 0.1667 | 0.4099440 | 52296.0 |
1 | 990380 | rs3121561 | C | T | 0.0103 | 0.0088 | 0.2417998 | 0.2418181 | 0.2667 | 0.3434500 | 69565.0 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 51216564 | rs9616970 | T | C | -0.0093 | 0.0120 | 0.4382995 | 0.4383397 | 0.1500 | 0.1563500 | 70597.5 |
22 | 51217134 | rs117417021 | A | G | 0.0033 | 0.0093 | 0.7226999 | 0.7227104 | 0.4417 | 0.2671730 | 55791.0 |
22 | 51222100 | rs114553188 | G | T | -0.0166 | 0.0146 | 0.2555001 | 0.2555440 | 0.0667 | 0.0880591 | 84159.0 |
22 | 51223637 | rs375798137 | G | A | -0.0168 | 0.0147 | 0.2530999 | 0.2530979 | 0.0667 | 0.0788738 | 84158.3 |
22 | 51229805 | rs9616985 | T | C | 0.0220 | 0.0172 | 0.2009000 | 0.2008725 | 0.0917 | 0.0730831 | 57392.0 |
23 | 35921591 | rs2204667 | C | G | -0.0038 | 0.0069 | 0.5818004 | 0.5818225 | 0.1667 | NA | 104559.0 |
23 | 51666786 | rs14115 | A | G | 0.0078 | 0.0113 | 0.4899999 | 0.4900272 | 0.0250 | NA | 98944.7 |
23 | 70163799 | rs1626496 | A | C | -0.0036 | 0.0098 | 0.7133998 | 0.7133602 | 0.0750 | NA | 104537.0 |
23 | 91415872 | rs6562597 | G | A | -0.0166 | 0.0191 | 0.3847999 | 0.3847870 | 0.0083 | 0.0021192 | 92657.7 |
23 | 118495837 | rs12882977 | G | A | -0.0010 | 0.0050 | 0.8415000 | 0.8414806 | 0.5167 | 0.2307280 | 104599.0 |
1 721290 rs12565286 G C . PASS AF=0.0678 ES:SE:LP:AF:SS:ID 0.0051:0.0187:0.104688:0.0678:54354:rs12565286
1 752566 rs3094315 G A . PASS AF=0.8448 ES:SE:LP:AF:SS:ID -0.0122:0.0084:0.834459:0.8448:66360.8:rs3094315
1 775659 rs2905035 A G . PASS AF=0.875 ES:SE:LP:AF:SS:ID -0.0113:0.0095:0.630228:0.875:70540.8:rs2905035
1 777122 rs2980319 A T . PASS AF=0.875 ES:SE:LP:AF:SS:ID -0.0117:0.0095:0.661344:0.875:71011.8:rs2980319
1 779322 rs4040617 A G . PASS AF=0.125 ES:SE:LP:AF:SS:ID 0.0134:0.01:0.744245:0.125:65595.3:rs4040617
1 780785 rs2977612 T A . PASS AF=0.8661 ES:SE:LP:AF:SS:ID -0.0119:0.0101:0.622148:0.8661:65191.5:rs2977612
1 785050 rs2905062 G A . PASS . ES:SE:LP:SS:ID -0.0099:0.0078:0.686555:93030.6:rs2905062
1 785989 rs2980300 T C . PASS AF=0.8729 ES:SE:LP:AF:SS:ID -0.0108:0.0098:0.567993:0.8729:65613.7:rs2980300
1 798959 rs11240777 G A . PASS AF=0.1667 ES:SE:LP:AF:SS:ID 0.0133:0.0106:0.678609:0.1667:52296:rs11240777
1 990380 rs3121561 C T . PASS AF=0.2667 ES:SE:LP:AF:SS:ID 0.0103:0.0088:0.616544:0.2667:69565:rs3121561
1 998501 rs3813193 G C . PASS AF=0.15 ES:SE:LP:AF:SS:ID 0.0122:0.0089:0.76853:0.15:68468.5:rs3813193
1 1003629 rs4075116 C T . PASS AF=0.7373 ES:SE:LP:AF:SS:ID 0.0011:0.0063:0.0647951:0.7373:99136.4:rs4075116
1 1005806 rs3934834 C T . PASS AF=0.1167 ES:SE:LP:AF:SS:ID 0.0104:0.0084:0.66615:0.1167:73957.6:rs3934834
1 1017170 rs3766193 C G . PASS AF=0.5667 ES:SE:LP:AF:SS:ID -0.0053:0.006:0.423543:0.5667:97452:rs3766193
1 1017197 rs3766192 C T . PASS AF=0.5763 ES:SE:LP:AF:SS:ID -0.0051:0.0058:0.421132:0.5763:98328.6:rs3766192
1 1017587 rs3766191 C T . PASS AF=0.09649 ES:SE:LP:AF:SS:ID 0.0129:0.0086:0.874194:0.09649:76755.3:rs3766191
1 1018562 rs9442371 C T . PASS AF=0.5917 ES:SE:LP:AF:SS:ID -0.005:0.0055:0.439735:0.5917:100165:rs9442371
1 1018704 rs9442372 A G . PASS AF=0.6017 ES:SE:LP:AF:SS:ID -0.0052:0.0055:0.462937:0.6017:100148:rs9442372
1 1021346 rs10907177 A G . PASS AF=0.1271 ES:SE:LP:AF:SS:ID 0.0102:0.0086:0.627825:0.1271:76660.7:rs10907177
1 1021415 rs3737728 A G . PASS AF=0.7167 ES:SE:LP:AF:SS:ID -0.0028:0.0061:0.189633:0.7167:101431:rs3737728
1 1021583 rs10907178 A C . PASS . ES:SE:LP:SS:ID 0.011:0.0087:0.685922:76655.5:rs10907178
1 1021695 rs9442398 A G . PASS AF=0.725 ES:SE:LP:AF:SS:ID -0.0035:0.0062:0.2423:0.725:100917:rs9442398
1 1022037 rs6701114 C T . PASS AF=0.5667 ES:SE:LP:AF:SS:ID -0.0091:0.0062:0.8471:0.5667:87821.9:rs6701114
1 1026707 rs4074137 C A . PASS AF=0.6 ES:SE:LP:AF:SS:ID -0.01:0.0068:0.849551:0.6:72184.8:rs4074137
1 1030565 rs6687776 C T . PASS AF=0.08333 ES:SE:LP:AF:SS:ID 0.0154:0.008:1.26576:0.08333:78719.7:rs6687776
1 1030633 rs6678318 G A . PASS AF=0.08621 ES:SE:LP:AF:SS:ID 0.0194:0.0089:1.53358:0.08621:68885.7:rs6678318
1 1031540 rs9651273 A G . PASS AF=0.6583 ES:SE:LP:AF:SS:ID -0.0034:0.0069:0.20607:0.6583:73695.6:rs9651273
1 1036959 rs11579015 T C . PASS AF=0.05 ES:SE:LP:AF:SS:ID 0.0203:0.0096:1.46256:0.05:87574.4:rs11579015
1 1040026 rs6671356 T C . PASS AF=0.075 ES:SE:LP:AF:SS:ID 0.0135:0.0087:0.918293:0.075:82931.5:rs6671356
1 1046164 rs6666280 C T . PASS AF=0.06667 ES:SE:LP:AF:SS:ID 0.0141:0.0089:0.946537:0.06667:85776:rs6666280
1 1048955 rs4970405 A G . PASS AF=0.05172 ES:SE:LP:AF:SS:ID 0.0181:0.0095:1.24603:0.05172:87593.6:rs4970405
1 1049950 rs12726255 A G . PASS AF=0.06667 ES:SE:LP:AF:SS:ID 0.0144:0.0087:1.00926:0.06667:85805.5:rs12726255
1 1053452 rs4970409 G A . PASS AF=0.05 ES:SE:LP:AF:SS:ID 0.0198:0.0098:1.36311:0.05:87095.1:rs4970409
1 1060174 rs7548798 C T . PASS AF=0.3981 ES:SE:LP:AF:SS:ID -0.0023:0.0081:0.109914:0.3981:57571.6:rs7548798
1 1060235 rs7540009 G A . PASS AF=0.01667 ES:SE:LP:AF:SS:ID -0.0126:0.019:0.294821:0.01667:69041:rs7540009
1 1060608 rs17160824 G A . PASS AF=0.05833 ES:SE:LP:AF:SS:ID 0.021:0.01:1.44697:0.05833:87473.7:rs17160824
1 1061115 rs17160826 T C . PASS AF=0.05455 ES:SE:LP:AF:SS:ID 0.0212:0.01:1.46839:0.05455:87493.3:rs17160826
1 1061152 rs12748370 T C . PASS . ES:SE:LP:SS:ID 0.0213:0.01:1.47925:87019.4:rs12748370
1 1061166 rs11807848 T C . PASS AF=0.4123 ES:SE:LP:AF:SS:ID 0.0082:0.0067:0.655608:0.4123:69854.8:rs11807848
1 1062015 rs9659914 C T . PASS AF=0.01667 ES:SE:LP:AF:SS:ID -0.0111:0.0202:0.234555:0.01667:63020:rs9659914
1 1062638 rs9442373 C A . PASS AF=0.5517 ES:SE:LP:AF:SS:ID -0.0031:0.0067:0.191384:0.5517:69290.5:rs9442373
1 1064535 rs6682475 G C . PASS AF=0.7542 ES:SE:LP:AF:SS:ID -0.0155:0.01:0.916856:0.7542:58048.5:rs6682475
1 1064979 rs2298217 C T . PASS AF=0.08333 ES:SE:LP:AF:SS:ID 0.0158:0.0088:1.13918:0.08333:73354.4:rs2298217
1 1066403 rs10907182 T C . PASS AF=0.675 ES:SE:LP:AF:SS:ID -0.0013:0.0072:0.0671712:0.675:66990.4:rs10907182
1 1071118 rs10907183 G C . PASS AF=0.6833 ES:SE:LP:AF:SS:ID -0.0003:0.0077:0.013721:0.6833:66538.9:rs10907183
1 1077064 rs4970357 C A . PASS AF=0.92373 ES:SE:LP:AF:SS:ID 0.0087:0.0121:0.325966:0.92373:91156.5:rs4970357
1 1087683 rs9442380 T C . PASS AF=0.91228 ES:SE:LP:AF:SS:ID 0.0018:0.0106:0.0628835:0.91228:95455.9:rs9442380
1 1089262 rs4970358 A G . PASS AF=0.9661 ES:SE:LP:AF:SS:ID 0.0028:0.0139:0.075514:0.9661:95345.9:rs4970358
1 1094738 rs4970362 A G . PASS AF=0.6667 ES:SE:LP:AF:SS:ID 0.0072:0.0076:0.464073:0.6667:53846.6:rs4970362
1 1097335 rs9442385 T G . PASS AF=0.94167 ES:SE:LP:AF:SS:ID 0.0043:0.0103:0.169861:0.94167:100441:rs9442385