{
"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-970,TotalVariants=124474,VariantsNotRead=0,HarmonisedVariants=124474,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-970/ieu-a-970_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2020-02-04T08:09:04.957870",
"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-970/ieu-a-970.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-970/ieu-a-970_data.vcf.gz; Date=Tue Feb 4 20:49:18 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-970/ieu-a-970.vcf.gz; Date=Sun May 10 12:21:29 2020"
}
*********************************************************************
* LD Score Regression (LDSC)
* Version 1.0.1
* (C) 2014-2019 Brendan Bulik-Sullivan and Hilary Finucane
* Broad Institute of MIT and Harvard / MIT Department of Mathematics
* GNU General Public License v3
*********************************************************************
Call:
./ldsc.py \
--h2 /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-970/ieu-a-970.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-970/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 11:38:45 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-970/ieu-a-970.vcf.gz ...
Read summary statistics for 124474 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, 50573 SNPs remain.
After merging with regression SNP LD, 50573 SNPs remain.
WARNING: number of SNPs less than 200k; this is almost always bad.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 2.8265 (0.3127)
Lambda GC: 2.2022
Mean Chi^2: 4.0888
Intercept: 1.2875 (0.0577)
Ratio: 0.0931 (0.0187)
Analysis finished at Wed Feb 5 11:38:54 2020
Total time elapsed: 9.45s
{
"af_correlation": 0.7668,
"inflation_factor": 2.5645,
"mean_EFFECT": -0.0006,
"n": 47745,
"n_snps": 124474,
"n_clumped_hits": 88,
"n_p_sig": 3733,
"n_mono": 0,
"n_ns": 0,
"n_mac": 29,
"is_snpid_unique": true,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 0,
"n_miss_AF_reference": 840,
"n_est": 47965.9545,
"ratio_se_n": 1.0023,
"mean_diff": 0.0007,
"ratio_diff": 1.9566,
"sd_y_est1": 1.9795,
"sd_y_est2": 1.984,
"r2_sum1": 0.6643,
"r2_sum2": 0.1695,
"r2_sum3": 0.1688,
"r2_sum4": 0.1705,
"ldsc_nsnp_merge_refpanel_ld": 50573,
"ldsc_nsnp_merge_regression_ld": 50573,
"ldsc_observed_scale_h2_beta": 2.8265,
"ldsc_observed_scale_h2_se": 0.3127,
"ldsc_intercept_beta": 1.2875,
"ldsc_intercept_se": 0.0577,
"ldsc_lambda_gc": 2.2022,
"ldsc_mean_chisq": 4.0888,
"ldsc_ratio": 0.0931
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | TRUE |
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 | TRUE |
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 | 5 | 25 | 0 | 124474 | 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 | 8.085865e+00 | 5.768649e+00 | 1.00000e+00 | 3.000000e+00 | 6.000000e+00 | 1.200000e+01 | 2.200000e+01 | ▇▅▃▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.906188e+07 | 5.778011e+07 | 6.34110e+04 | 3.292806e+07 | 6.222332e+07 | 1.176462e+08 | 2.492107e+08 | ▇▅▃▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | -6.411000e-04 | 5.633520e-02 | -1.10304e+00 | -2.285080e-02 | -3.878000e-04 | 2.228210e-02 | 1.058540e+00 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.702680e-02 | 2.967630e-02 | 1.23244e-02 | 1.381470e-02 | 1.717040e-02 | 2.722270e-02 | 9.404370e-01 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.524185e-01 | 3.164045e-01 | 0.00000e+00 | 4.509410e-02 | 2.800838e-01 | 6.185905e-01 | 9.999573e-01 | ▇▃▂▂▂ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.524185e-01 | 3.164045e-01 | 0.00000e+00 | 4.509300e-02 | 2.800825e-01 | 6.185905e-01 | 9.999573e-01 | ▇▃▂▂▂ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.128062e-01 | 2.827421e-01 | 1.49000e-05 | 7.263250e-02 | 2.226000e-01 | 5.004000e-01 | 9.999850e-01 | ▇▃▂▂▂ |
numeric | AF_reference | 840 | 0.9932516 | NA | NA | NA | NA | NA | 2.869068e-01 | 2.575957e-01 | 1.99700e-04 | 7.428120e-02 | 2.066690e-01 | 4.466850e-01 | 1.000000e+00 | ▇▃▂▂▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.774500e+04 | 0.000000e+00 | 4.77450e+04 | 4.774500e+04 | 4.774500e+04 | 4.774500e+04 | 4.774500e+04 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 1118275 | rs61733845 | C | T | 0.0192020 | 0.0320018 | 0.5484866 | 0.5484871 | 0.04416 | 0.185703 | 47745 |
1 | 1120431 | rs1320571 | G | A | 0.0098475 | 0.0314857 | 0.7544614 | 0.7544620 | 0.04653 | 0.185304 | 47745 |
1 | 1135242 | rs9729550 | A | C | 0.0433147 | 0.0147194 | 0.0032537 | 0.0032537 | 0.25870 | 0.551917 | 47745 |
1 | 1140435 | rs1815606 | G | T | 0.0405531 | 0.0142165 | 0.0043371 | 0.0043372 | 0.31790 | 0.712061 | 47745 |
1 | 1163804 | rs7515488 | C | T | 0.0906364 | 0.0173110 | 0.0000002 | 0.0000002 | 0.14860 | 0.186901 | 47745 |
1 | 1165310 | rs11260562 | G | A | 0.0903556 | 0.0264339 | 0.0006304 | 0.0006304 | 0.05560 | 0.101837 | 47745 |
1 | 1173611 | rs6697886 | G | A | 0.0994688 | 0.0178792 | 0.0000000 | 0.0000000 | 0.13730 | 0.220647 | 47745 |
1 | 1186502 | rs6603785 | A | T | 0.1069210 | 0.0189560 | 0.0000000 | 0.0000000 | 0.11950 | 0.246206 | 47745 |
1 | 1194804 | rs11804831 | T | C | 0.0910417 | 0.0160841 | 0.0000000 | 0.0000000 | 0.18560 | 0.685903 | 47745 |
1 | 1218086 | rs6603788 | C | T | 0.0747598 | 0.0230269 | 0.0011678 | 0.0011678 | 0.07697 | 0.469449 | 47745 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 50966914 | rs470119 | T | C | -0.0557607 | 0.0127581 | 0.0000124 | 0.0000124 | 0.609800 | 0.5547120 | 47745 |
22 | 50971752 | rs131794 | A | C | -0.0685185 | 0.0151700 | 0.0000063 | 0.0000063 | 0.791900 | 0.8326680 | 47745 |
22 | 50988193 | rs131779 | A | G | -0.0208810 | 0.0136947 | 0.1273210 | 0.1273214 | 0.657900 | 0.5802720 | 47745 |
22 | 50999182 | rs140518 | C | T | -0.0408692 | 0.0137477 | 0.0029509 | 0.0029509 | 0.696600 | 0.7655750 | 47745 |
22 | 51078251 | rs4040041 | C | T | 0.0088169 | 0.0132207 | 0.5048345 | 0.5048343 | 0.373100 | 0.4666530 | 47745 |
22 | 51094926 | rs9616810 | C | T | 0.0411207 | 0.0151862 | 0.0067736 | 0.0067737 | 0.218600 | 0.2224440 | 47745 |
22 | 51105556 | rs9616812 | C | T | -0.0223395 | 0.0128789 | 0.0828171 | 0.0828150 | 0.483200 | 0.3628190 | 47745 |
22 | 51109992 | rs9628185 | T | C | -0.0289028 | 0.0130478 | 0.0267498 | 0.0267500 | 0.484300 | 0.4053510 | 47745 |
22 | 51134186 | rs8135777 | A | G | -0.4247410 | 0.3102890 | 0.1710437 | 0.1710443 | 0.000446 | 0.0273562 | 47745 |
22 | 51156666 | rs9628187 | C | T | -0.0061069 | 0.0163022 | 0.7079523 | 0.7079536 | 0.203200 | 0.1299920 | 47745 |
1 1118275 rs61733845 C T . PASS AF=0.04416 ES:SE:LP:AF:SS:ID 0.019202:0.0320018:0.260834:0.04416:47745:rs61733845
1 1120431 rs1320571 G A . PASS AF=0.04653 ES:SE:LP:AF:SS:ID 0.00984751:0.0314857:0.122363:0.04653:47745:rs1320571
1 1135242 rs9729550 A C . PASS AF=0.2587 ES:SE:LP:AF:SS:ID 0.0433147:0.0147194:2.48762:0.2587:47745:rs9729550
1 1140435 rs1815606 G T . PASS AF=0.3179 ES:SE:LP:AF:SS:ID 0.0405531:0.0142165:2.3628:0.3179:47745:rs1815606
1 1163804 rs7515488 C T . PASS AF=0.1486 ES:SE:LP:AF:SS:ID 0.0906364:0.017311:6.78439:0.1486:47745:rs7515488
1 1165310 rs11260562 G A . PASS AF=0.0556 ES:SE:LP:AF:SS:ID 0.0903556:0.0264339:3.20036:0.0556:47745:rs11260562
1 1173611 rs6697886 G A . PASS AF=0.1373 ES:SE:LP:AF:SS:ID 0.0994688:0.0178792:7.57742:0.1373:47745:rs6697886
1 1186502 rs6603785 A T . PASS AF=0.1195 ES:SE:LP:AF:SS:ID 0.106921:0.018956:7.77064:0.1195:47745:rs6603785
1 1194804 rs11804831 T C . PASS AF=0.1856 ES:SE:LP:AF:SS:ID 0.0910417:0.0160841:7.82086:0.1856:47745:rs11804831
1 1218086 rs6603788 C T . PASS AF=0.07697 ES:SE:LP:AF:SS:ID 0.0747598:0.0230269:2.93262:0.07697:47745:rs6603788
1 1227897 rs3737721 A G . PASS AF=0.002436 ES:SE:LP:AF:SS:ID 0.0517328:0.0945477:0.233388:0.002436:47745:rs3737721
1 1231656 rs1749951 G A . PASS AF=0.04028 ES:SE:LP:AF:SS:ID 0.062385:0.0329014:1.23699:0.04028:47745:rs1749951
1 1233941 rs1739855 T C . PASS AF=0.07333 ES:SE:LP:AF:SS:ID 0.0662944:0.0237983:2.27233:0.07333:47745:rs1739855
1 1241529 rs1536168 A G . PASS AF=0.95394 ES:SE:LP:AF:SS:ID -0.0688144:0.0302075:1.64353:0.95394:47745:rs1536168
1 1242468 rs2274264 G A . PASS AF=0.002467 ES:SE:LP:AF:SS:ID 0.0503525:0.100315:0.210625:0.002467:47745:rs2274264
1 1247494 rs12103 T C . PASS AF=0.8166 ES:SE:LP:AF:SS:ID -0.0995588:0.0162944:9.00158:0.8166:47745:rs12103
1 1249187 rs12142199 G A . PASS AF=0.8026 ES:SE:LP:AF:SS:ID -0.0983383:0.0159317:9.17249:0.8026:47745:rs12142199
1 1254255 rs62623580 G A . PASS AF=0.007606 ES:SE:LP:AF:SS:ID 0.115117:0.0702762:0.993929:0.007606:47745:rs62623580
1 1335790 rs1240708 A G . PASS AF=0.1737 ES:SE:LP:AF:SS:ID 0.0958588:0.0164435:8.25517:0.1737:47745:rs1240708
1 1493727 rs880051 G A . PASS AF=0.232 ES:SE:LP:AF:SS:ID 0.0561188:0.0148341:3.80998:0.232:47745:rs880051
1 1497824 rs2296716 C T . PASS AF=0.1208 ES:SE:LP:AF:SS:ID 0.0331484:0.019684:1.03538:0.1208:47745:rs2296716
1 1611995 rs4074196 A G . PASS AF=0.4414 ES:SE:LP:AF:SS:ID -0.0129163:0.0144783:0.429071:0.4414:47745:rs4074196
1 1706160 rs7531583 A G . PASS AF=0.77 ES:SE:LP:AF:SS:ID -0.0411673:0.0147257:2.28566:0.77:47745:rs7531583
1 1721479 rs2272908 C T . PASS AF=0.4974 ES:SE:LP:AF:SS:ID -0.0583209:0.0125715:5.45608:0.4974:47745:rs2272908
1 1723031 rs9660180 G A . PASS AF=0.4974 ES:SE:LP:AF:SS:ID -0.0585612:0.012573:5.49515:0.4974:47745:rs9660180
1 1781220 rs6681938 T C . PASS AF=0.2996 ES:SE:LP:AF:SS:ID -0.04139:0.0142526:2.4337:0.2996:47745:rs6681938
1 1838516 rs2377037 C A . PASS AF=0.2747 ES:SE:LP:AF:SS:ID 0.0408188:0.0142903:2.36807:0.2747:47745:rs2377037
1 1840038 rs2474461 T C . PASS AF=0.95331 ES:SE:LP:AF:SS:ID -0.121137:0.0293899:4.42476:0.95331:47745:rs2474461
1 1853288 rs1884454 G T . PASS AF=0.2694 ES:SE:LP:AF:SS:ID 0.0391229:0.0143493:2.1937:0.2694:47745:rs1884454
1 1855319 rs2295362 C T . PASS AF=0.0452 ES:SE:LP:AF:SS:ID 0.0744716:0.0304297:1.84189:0.0452:47745:rs2295362
1 1871337 rs16824543 G A . PASS AF=0.04241 ES:SE:LP:AF:SS:ID 0.0706185:0.0313929:1.61118:0.04241:47745:rs16824543
1 1873625 rs12758705 G A . PASS AF=0.2651 ES:SE:LP:AF:SS:ID 0.037465:0.0145693:1.99458:0.2651:47745:rs12758705
1 1881070 rs4648596 G A . PASS AF=0.04073 ES:SE:LP:AF:SS:ID 0.0764288:0.0329815:1.68854:0.04073:47745:rs4648596
1 1888193 rs3820011 C A . PASS AF=0.2698 ES:SE:LP:AF:SS:ID 0.0342737:0.0145362:1.73559:0.2698:47745:rs3820011
1 2024064 rs2459994 C T . PASS AF=0.1824 ES:SE:LP:AF:SS:ID 0.0207617:0.0169543:0.656127:0.1824:47745:rs2459994
1 2146966 rs7512482 T C . PASS AF=0.1674 ES:SE:LP:AF:SS:ID -0.021892:0.0178823:0.655871:0.1674:47745:rs7512482
1 2202774 rs6673129 C T . PASS AF=0.1651 ES:SE:LP:AF:SS:ID 0.0231766:0.0179545:0.70607:0.1651:47745:rs6673129
1 2229478 rs12562937 C T . PASS AF=0.1998 ES:SE:LP:AF:SS:ID 0.0451627:0.0164414:2.22066:0.1998:47745:rs12562937
1 2283896 rs2840528 A G . PASS AF=0.4158 ES:SE:LP:AF:SS:ID 0.0162644:0.0131999:0.661766:0.4158:47745:rs2840528
1 2290143 rs34587196 G A . PASS AF=0.01202 ES:SE:LP:AF:SS:ID 0.0886126:0.0597007:0.860957:0.01202:47745:rs34587196
1 2404256 rs2494626 C T . PASS AF=0.2884 ES:SE:LP:AF:SS:ID -0.00187853:0.0153883:0.0443895:0.2884:47745:rs2494626
1 2407781 rs78504402 C T . PASS AF=0.06862 ES:SE:LP:AF:SS:ID -0.0437856:0.0270384:0.977309:0.06862:47745:rs78504402
1 2408471 rs115996655 G A . PASS AF=0.007814 ES:SE:LP:AF:SS:ID -0.002633:0.0681198:0.0136012:0.007814:47745:rs115996655
1 2408834 rs11588930 G A . PASS AF=0.101 ES:SE:LP:AF:SS:ID 0.0279766:0.0232268:0.641306:0.101:47745:rs11588930
1 2409892 rs12727342 A G . PASS AF=0.6229 ES:SE:LP:AF:SS:ID 0.0354679:0.0138191:1.98841:0.6229:47745:rs12727342
1 2410789 rs11799501 C T . PASS AF=0.5834 ES:SE:LP:AF:SS:ID 0.0444544:0.0137203:2.92261:0.5834:47745:rs11799501
1 2412279 rs4648638 A T . PASS AF=0.388 ES:SE:LP:AF:SS:ID -0.038505:0.0137544:2.29085:0.388:47745:rs4648638
1 2412293 rs12731186 C T . PASS AF=0.1211 ES:SE:LP:AF:SS:ID 0.0329436:0.0196216:1.03075:0.1211:47745:rs12731186
1 2413166 rs115810747 A G . PASS AF=0.04094 ES:SE:LP:AF:SS:ID 0.0181816:0.0355888:0.215073:0.04094:47745:rs115810747
1 2413464 rs114424485 G C . PASS AF=0.008958 ES:SE:LP:AF:SS:ID 0.0488255:0.066777:0.332852:0.008958:47745:rs114424485