{
"fileformat": "VCFv4.2",
"FILTER": "<ID=PASS,Description=\"All filters passed\">",
"INFO": "<ID=AF,Number=A,Type=Float,Description=\"Allele Frequency\">",
"FORMAT": "<ID=ES,Number=A,Type=Float,Description=\"Effect size estimate relative to the alternative allele\">",
"FORMAT.1": "<ID=SE,Number=A,Type=Float,Description=\"Standard error of effect size estimate\">",
"FORMAT.2": "<ID=LP,Number=A,Type=Float,Description=\"-log10 p-value for effect estimate\">",
"FORMAT.3": "<ID=AF,Number=A,Type=Float,Description=\"Alternate allele frequency in the association study\">",
"FORMAT.4": "<ID=SS,Number=A,Type=Float,Description=\"Sample size used to estimate genetic effect\">",
"FORMAT.5": "<ID=EZ,Number=A,Type=Float,Description=\"Z-score provided if it was used to derive the EFFECT and SE fields\">",
"FORMAT.6": "<ID=SI,Number=A,Type=Float,Description=\"Accuracy score of summary data imputation\">",
"FORMAT.7": "<ID=NC,Number=A,Type=Float,Description=\"Number of cases used to estimate genetic effect\">",
"FORMAT.8": "<ID=ID,Number=1,Type=String,Description=\"Study variant identifier\">",
"META": "<ID=TotalVariants,Number=1,Type=Integer,Description=\"Total number of variants in input\">",
"META.1": "<ID=VariantsNotRead,Number=1,Type=Integer,Description=\"Number of variants that could not be read\">",
"META.2": "<ID=HarmonisedVariants,Number=1,Type=Integer,Description=\"Total number of harmonised variants\">",
"META.3": "<ID=VariantsNotHarmonised,Number=1,Type=Integer,Description=\"Total number of variants that could not be harmonised\">",
"META.4": "<ID=SwitchedAlleles,Number=1,Type=Integer,Description=\"Total number of variants strand switched\">",
"META.5": "<ID=TotalControls,Number=1,Type=Integer,Description=\"Total number of controls in the association study\">",
"META.6": "<ID=TotalCases,Number=1,Type=Integer,Description=\"Total number of cases in the association study\">",
"META.7": "<ID=StudyType,Number=1,Type=String,Description=\"Type of GWAS study [Continuous or CaseControl]\">",
"SAMPLE": "<ID=ukb-d-41219_3,TotalVariants=9673766,VariantsNotRead=0,HarmonisedVariants=9673766,VariantsNotHarmonised=0,SwitchedAlleles=208,StudyType=Continuous>",
"contig": "<ID=1,length=249250621,assembly=HG19/GRCh37>",
"contig.1": "<ID=2,length=243199373,assembly=HG19/GRCh37>",
"contig.2": "<ID=3,length=198022430,assembly=HG19/GRCh37>",
"contig.3": "<ID=4,length=191154276,assembly=HG19/GRCh37>",
"contig.4": "<ID=5,length=180915260,assembly=HG19/GRCh37>",
"contig.5": "<ID=6,length=171115067,assembly=HG19/GRCh37>",
"contig.6": "<ID=7,length=159138663,assembly=HG19/GRCh37>",
"contig.7": "<ID=8,length=146364022,assembly=HG19/GRCh37>",
"contig.8": "<ID=9,length=141213431,assembly=HG19/GRCh37>",
"contig.9": "<ID=10,length=135534747,assembly=HG19/GRCh37>",
"contig.10": "<ID=11,length=135006516,assembly=HG19/GRCh37>",
"contig.11": "<ID=12,length=133851895,assembly=HG19/GRCh37>",
"contig.12": "<ID=13,length=115169878,assembly=HG19/GRCh37>",
"contig.13": "<ID=14,length=107349540,assembly=HG19/GRCh37>",
"contig.14": "<ID=15,length=102531392,assembly=HG19/GRCh37>",
"contig.15": "<ID=16,length=90354753,assembly=HG19/GRCh37>",
"contig.16": "<ID=17,length=81195210,assembly=HG19/GRCh37>",
"contig.17": "<ID=18,length=78077248,assembly=HG19/GRCh37>",
"contig.18": "<ID=19,length=59128983,assembly=HG19/GRCh37>",
"contig.19": "<ID=20,length=63025520,assembly=HG19/GRCh37>",
"contig.20": "<ID=21,length=48129895,assembly=HG19/GRCh37>",
"contig.21": "<ID=22,length=51304566,assembly=HG19/GRCh37>",
"contig.22": "<ID=X,length=155270560,assembly=HG19/GRCh37>",
"contig.23": "<ID=Y,length=59373566,assembly=HG19/GRCh37>",
"contig.24": "<ID=MT,length=16569,assembly=HG19/GRCh37>",
"contig.25": "<ID=GL000207.1,length=4262,assembly=HG19/GRCh37>",
"contig.26": "<ID=GL000226.1,length=15008,assembly=HG19/GRCh37>",
"contig.27": "<ID=GL000229.1,length=19913,assembly=HG19/GRCh37>",
"contig.28": "<ID=GL000231.1,length=27386,assembly=HG19/GRCh37>",
"contig.29": "<ID=GL000210.1,length=27682,assembly=HG19/GRCh37>",
"contig.30": "<ID=GL000239.1,length=33824,assembly=HG19/GRCh37>",
"contig.31": "<ID=GL000235.1,length=34474,assembly=HG19/GRCh37>",
"contig.32": "<ID=GL000201.1,length=36148,assembly=HG19/GRCh37>",
"contig.33": "<ID=GL000247.1,length=36422,assembly=HG19/GRCh37>",
"contig.34": "<ID=GL000245.1,length=36651,assembly=HG19/GRCh37>",
"contig.35": "<ID=GL000197.1,length=37175,assembly=HG19/GRCh37>",
"contig.36": "<ID=GL000203.1,length=37498,assembly=HG19/GRCh37>",
"contig.37": "<ID=GL000246.1,length=38154,assembly=HG19/GRCh37>",
"contig.38": "<ID=GL000249.1,length=38502,assembly=HG19/GRCh37>",
"contig.39": "<ID=GL000196.1,length=38914,assembly=HG19/GRCh37>",
"contig.40": "<ID=GL000248.1,length=39786,assembly=HG19/GRCh37>",
"contig.41": "<ID=GL000244.1,length=39929,assembly=HG19/GRCh37>",
"contig.42": "<ID=GL000238.1,length=39939,assembly=HG19/GRCh37>",
"contig.43": "<ID=GL000202.1,length=40103,assembly=HG19/GRCh37>",
"contig.44": "<ID=GL000234.1,length=40531,assembly=HG19/GRCh37>",
"contig.45": "<ID=GL000232.1,length=40652,assembly=HG19/GRCh37>",
"contig.46": "<ID=GL000206.1,length=41001,assembly=HG19/GRCh37>",
"contig.47": "<ID=GL000240.1,length=41933,assembly=HG19/GRCh37>",
"contig.48": "<ID=GL000236.1,length=41934,assembly=HG19/GRCh37>",
"contig.49": "<ID=GL000241.1,length=42152,assembly=HG19/GRCh37>",
"contig.50": "<ID=GL000243.1,length=43341,assembly=HG19/GRCh37>",
"contig.51": "<ID=GL000242.1,length=43523,assembly=HG19/GRCh37>",
"contig.52": "<ID=GL000230.1,length=43691,assembly=HG19/GRCh37>",
"contig.53": "<ID=GL000237.1,length=45867,assembly=HG19/GRCh37>",
"contig.54": "<ID=GL000233.1,length=45941,assembly=HG19/GRCh37>",
"contig.55": "<ID=GL000204.1,length=81310,assembly=HG19/GRCh37>",
"contig.56": "<ID=GL000198.1,length=90085,assembly=HG19/GRCh37>",
"contig.57": "<ID=GL000208.1,length=92689,assembly=HG19/GRCh37>",
"contig.58": "<ID=GL000191.1,length=106433,assembly=HG19/GRCh37>",
"contig.59": "<ID=GL000227.1,length=128374,assembly=HG19/GRCh37>",
"contig.60": "<ID=GL000228.1,length=129120,assembly=HG19/GRCh37>",
"contig.61": "<ID=GL000214.1,length=137718,assembly=HG19/GRCh37>",
"contig.62": "<ID=GL000221.1,length=155397,assembly=HG19/GRCh37>",
"contig.63": "<ID=GL000209.1,length=159169,assembly=HG19/GRCh37>",
"contig.64": "<ID=GL000218.1,length=161147,assembly=HG19/GRCh37>",
"contig.65": "<ID=GL000220.1,length=161802,assembly=HG19/GRCh37>",
"contig.66": "<ID=GL000213.1,length=164239,assembly=HG19/GRCh37>",
"contig.67": "<ID=GL000211.1,length=166566,assembly=HG19/GRCh37>",
"contig.68": "<ID=GL000199.1,length=169874,assembly=HG19/GRCh37>",
"contig.69": "<ID=GL000217.1,length=172149,assembly=HG19/GRCh37>",
"contig.70": "<ID=GL000216.1,length=172294,assembly=HG19/GRCh37>",
"contig.71": "<ID=GL000215.1,length=172545,assembly=HG19/GRCh37>",
"contig.72": "<ID=GL000205.1,length=174588,assembly=HG19/GRCh37>",
"contig.73": "<ID=GL000219.1,length=179198,assembly=HG19/GRCh37>",
"contig.74": "<ID=GL000224.1,length=179693,assembly=HG19/GRCh37>",
"contig.75": "<ID=GL000223.1,length=180455,assembly=HG19/GRCh37>",
"contig.76": "<ID=GL000195.1,length=182896,assembly=HG19/GRCh37>",
"contig.77": "<ID=GL000212.1,length=186858,assembly=HG19/GRCh37>",
"contig.78": "<ID=GL000222.1,length=186861,assembly=HG19/GRCh37>",
"contig.79": "<ID=GL000200.1,length=187035,assembly=HG19/GRCh37>",
"contig.80": "<ID=GL000193.1,length=189789,assembly=HG19/GRCh37>",
"contig.81": "<ID=GL000194.1,length=191469,assembly=HG19/GRCh37>",
"contig.82": "<ID=GL000225.1,length=211173,assembly=HG19/GRCh37>",
"contig.83": "<ID=GL000192.1,length=547496,assembly=HG19/GRCh37>",
"gwas_harmonisation_command": "--json /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-41219_3/ukb-d-41219_3_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2019-11-25T15:12:30.532728",
"bcftools_annotateVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_annotateCommand": "annotate -a /mnt/storage/home/gh13047/mr-eve/vcf-reference-datasets/dbsnp/dbsnp.v153.b37.vcf.gz -c ID -o /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-41219_3/ukb-d-41219_3.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-41219_3/ukb-d-41219_3_data.vcf.gz; Date=Mon Nov 25 15:53:22 2019",
"bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukb-d-41219_3/ukb-d-41219_3.vcf.gz; Date=Sun May 10 09:46:05 2020"
}
*********************************************************************
* LD Score Regression (LDSC)
* Version 1.0.1
* (C) 2014-2019 Brendan Bulik-Sullivan and Hilary Finucane
* Broad Institute of MIT and Harvard / MIT Department of Mathematics
* GNU General Public License v3
*********************************************************************
Call:
./ldsc.py \
--h2 /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-41219_3/ukb-d-41219_3.vcf.gz \
--ref-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ \
--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-41219_3/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/
Beginning analysis at Mon Nov 25 16:52:43 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-41219_3/ukb-d-41219_3.vcf.gz ...
Read summary statistics for 9673766 SNPs.
Dropped 7279 SNPs with duplicated rs numbers.
Reading reference panel LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read reference panel LD Scores for 1290028 SNPs.
Removing partitioned LD Scores with zero variance.
Reading regression weight LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1274987 SNPs remain.
After merging with regression SNP LD, 1274987 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: -0.1034 (0.1252)
Lambda GC: 1.0014
Mean Chi^2: 1.0017
Intercept: 1.0086 (0.0063)
Ratio: 4.9815 (3.6878)
Analysis finished at Mon Nov 25 16:54:15 2019
Total time elapsed: 1.0m:32.91s
{
"af_correlation": 0.9398,
"inflation_factor": 0.9989,
"mean_EFFECT": 0.0002,
"n": 3345,
"n_snps": 9673766,
"n_clumped_hits": 0,
"n_p_sig": 0,
"n_mono": 0,
"n_ns": 1062112,
"n_mac": 0,
"is_snpid_unique": false,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 0,
"n_miss_AF_reference": 192760,
"n_est": 3330.7947,
"ratio_se_n": 0.9979,
"mean_diff": 0.0002,
"ratio_diff": 417.8498,
"sd_y_est1": 0.4355,
"sd_y_est2": 0.4346,
"r2_sum1": 0,
"r2_sum2": 0,
"r2_sum3": 0,
"r2_sum4": 0,
"ldsc_nsnp_merge_refpanel_ld": 1274987,
"ldsc_nsnp_merge_regression_ld": 1274987,
"ldsc_observed_scale_h2_beta": "NA",
"ldsc_observed_scale_h2_se": "NA",
"ldsc_intercept_beta": 1.0086,
"ldsc_intercept_se": 0.0063,
"ldsc_lambda_gc": 1.0014,
"ldsc_mean_chisq": 1.0017,
"ldsc_ratio": 5.0588
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | FALSE |
n | TRUE |
is_snpid_non_unique | TRUE |
mean_EFFECT_nonfinite | FALSE |
mean_EFFECT_05 | FALSE |
mean_EFFECT_01 | FALSE |
mean_chisq | FALSE |
n_p_sig | FALSE |
miss_EFFECT | FALSE |
miss_SE | FALSE |
miss_PVAL | FALSE |
ldsc_ratio | TRUE |
ldsc_intercept_beta | FALSE |
n_clumped_hits | FALSE |
r2_sum1 | FALSE |
r2_sum2 | FALSE |
r2_sum3 | FALSE |
r2_sum4 | FALSE |
General metrics
af_correlation
: Correlation coefficient between AF
and AF_reference
.inflation_factor
(lambda
): Genomic inflation factor.mean_EFFECT
: Mean of EFFECT
size.n
: Maximum value of reported sample size across all SNPs, \(n\).n_clumped_hits
: Number of clumped hits.n_snps
: Number of SNPsn_p_sig
: Number of SNPs with pvalue below 5e-8
.n_mono
: Number of monomorphic (MAF == 1
or MAF == 0
) SNPs.n_ns
: Number of SNPs with nonsense values:
A, C, G or T
.< 0
or > 1
.<= 0
or = Infinity
).< 0
or > 1
.n_mac
: Number of cases where MAC
(\(2 \times N \times MAF\)) is less than 6
.is_snpid_unique
: true
if the combination of ID
REF
ALT
is unique and therefore no duplication in snpid.n_miss_<*>
: Number of NA
observations for <*>
column.se_n metrics
n_est
: Estimated sample size value, \(\widehat{n}\).ratio_se_n
: \(\texttt{ratio_se_n} = \frac{\sqrt{\widehat{n}}}{\sqrt{n}}\). We expect ratio_se_n
to be 1. When it is not 1, it implies that the trait did not have a variance of 1, the reported sample size is wrong, or that the SNP-level effective sample sizes differ markedly from the reported sample size.mean_diff
: \(\texttt{mean_diff} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta_j}{\texttt{n_snps}}\), mean difference between the standardised beta, predicted from P-values, and the observed beta. The difference should be very close to zero if trait has a variance of 1.
ratio_diff
: \(\texttt{ratio_diff} = |\frac{\texttt{mean_diff}}{\texttt{mean_diff2}}|\), absolute ratio between the mean of diff
and the mean of diff2
(expected difference between the standardised beta predicted from P-values, and the standardised beta derived from the observed beta divided by the predicted SD; NOT reported). The ratio should be close to 1. If different from 1, then implies that the betas are not in a standard deviation scale.
sd_y_est1
: The standard deviation for the trait inferred from the reported sample size, median standard errors for the SNP-trait assocations and SNP variances.
sd_y_est2
: The standard deviation for the trait inferred from the reported sample size, Z statistics for the SNP-trait effects (beta/se) and allele frequency.
r2 metrics
Sum of variance explained, calculated from the clumped top hits sample.
r2_sum<*>
: r2
statistics under various assumptions
1
: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var1}}}\), \(\texttt{var1} = 1\).2
: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var2}}}\), \(\texttt{var2} = {\widehat{\texttt{sd1}}_{y}}^2\),3
: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var3}}}\), \(\texttt{var3} = {\widehat{\texttt{sd2}}_{y}}^2\),4
: \(r^2 = \sum_j{\frac{F_j}{F_j + n - 2}}\), \(F = \frac{\beta_j^2}{{se}_j^2}\).LDSC metrics
Metrics from LD regression
ldsc_nsnp_merge_refpanel_ld
: Number of remaining SNPs after merging with reference panel LD.ldsc_nsnp_merge_regression_ld
: Number of remaining SNPs after merging with regression SNP LD.ldsc_observed_scale_h2_{beta,se}
Coefficient value and SE for total observed scale h2.ldsc_intercept_{beta,se}
: Coefficient value and SE for intercept. Intercept is expected to be 1.ldsc_lambda_gc
: Lambda GC statistics.ldsc_mean_chisq
: Mean \(\chi^2\) statistics.ldsc_ratio
: \(\frac{\texttt{ldsc_intercept_beta} - 1}{\texttt{ldsc_mean_chisq} - 1}\), the proportion of the inflation in the mean \(\chi^2\) that the LD Score regression intercepts ascribes to causes other than polygenic heritability. The value of ratio should be close to zero, though in practice values of 0.1-0.2 are not uncommon, probably due to sample/reference LD Score mismatch or model misspecification (e.g., low LD variants have slightly higher \(h^2\) per SNP).Flags
When a metric needs attention, the flag should return TRUE.
af_correlation
: abs(af_correlation)
< 0.7.inflation_factor
: inflation_factor
> 1.2.n
: n
(max reported sample size) < 10000.is_snpid_non_unique
: NOT is_snpid_unique
.mean_EFFECT_nonfinite
: mean(EFFECT)
is NA
, NaN
, or Inf
.mean_EFFECT_05
: abs(mean(EFFECT))
> 0.5.mean_EFFECT_01
: abs(mean(EFFECT))
> 0.1.mean_chisq
: ldsc_mean_chisq
> 1.3 or ldsc_mean_chisq
< 0.7.n_p_sig
: n_p_sig
> 1000.miss_<*>
: n_miss_<*>
/ n_snps
> 0.01.ldsc_ratio
: ldsc_ratio
> 0.5ldsc_intercept_beta
: ldsc_intercept_beta
> 1.5n_clumped_hits
: n_clumped_hits
> 1000r2_sum<*>
: r2_sum<*>
> 0.5Plots
skim_type | skim_variable | n_missing | complete_rate | character.min | character.max | character.empty | character.n_unique | character.whitespace | numeric.mean | numeric.sd | numeric.p0 | numeric.p25 | numeric.p50 | numeric.p75 | numeric.p100 | numeric.hist |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
character | ID | 0 | 1.0000000 | 3 | 94 | 0 | 9667037 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 98 | 0 | 47018 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 342 | 0 | 29687 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.079201e+00 | 6.175339e+00 | 1.0000000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.300000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.872808e+07 | 5.611156e+07 | 302.0000000 | 3.242804e+07 | 6.960162e+07 | 1.147247e+08 | 2.492297e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.586000e-04 | 2.390200e-02 | -0.2099920 | -1.139130e-02 | 3.480000e-05 | 1.149930e-02 | 2.517130e-01 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.077180e-02 | 1.179010e-02 | 0.0102526 | 1.165300e-02 | 1.553280e-02 | 2.657100e-02 | 6.781530e-02 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.998545e-01 | 2.886051e-01 | 0.0000003 | 2.499539e-01 | 5.002384e-01 | 7.497613e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.998065e-01 | 2.886340e-01 | 0.0000003 | 2.498708e-01 | 5.001913e-01 | 7.497414e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 2.622775e-01 | 2.628735e-01 | 0.0099686 | 4.458340e-02 | 1.603860e-01 | 4.173290e-01 | 9.900310e-01 | ▇▂▂▁▁ |
numeric | AF_reference | 192760 | 0.9800739 | NA | NA | NA | NA | NA | 2.617310e-01 | 2.536863e-01 | 0.0000000 | 5.071880e-02 | 1.755190e-01 | 4.127400e-01 | 1.000000e+00 | ▇▃▂▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.345000e+03 | 0.000000e+00 | 3345.0000000 | 3.345000e+03 | 3.345000e+03 | 3.345000e+03 | 3.345000e+03 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 692794 | rs530212009 | CA | C | 0.0315765 | 0.0184339 | 0.0868140 | 0.0867202 | 0.1124020 | 0.1894970 | 3345 |
1 | 693731 | rs12238997 | A | G | 0.0355537 | 0.0174870 | 0.0421163 | 0.0420373 | 0.1170260 | 0.1417730 | 3345 |
1 | 707522 | rs371890604 | G | C | 0.0387865 | 0.0198513 | 0.0508031 | 0.0507187 | 0.0975873 | 0.1293930 | 3345 |
1 | 717587 | rs144155419 | G | A | 0.0005243 | 0.0455998 | 0.9908260 | 0.9908257 | 0.0168393 | 0.0045926 | 3345 |
1 | 730087 | rs148120343 | T | C | 0.0544886 | 0.0241000 | 0.0238276 | 0.0237631 | 0.0585521 | 0.0127796 | 3345 |
1 | 731718 | rs142557973 | T | C | 0.0364195 | 0.0165944 | 0.0282553 | 0.0281861 | 0.1229470 | 0.1543530 | 3345 |
1 | 732032 | rs61770163 | A | C | 0.0319719 | 0.0177296 | 0.0714315 | 0.0713401 | 0.1228790 | 0.1555510 | 3345 |
1 | 734349 | rs141242758 | T | C | 0.0375004 | 0.0165808 | 0.0237821 | 0.0237174 | 0.1220140 | 0.1525560 | 3345 |
1 | 749963 | rs529266287 | T | TAA | -0.0275784 | 0.0161719 | 0.0882287 | 0.0881332 | 0.8685380 | 0.7641770 | 3345 |
1 | 751343 | rs28544273 | T | A | 0.0269185 | 0.0161054 | 0.0947393 | 0.0946435 | 0.1242360 | 0.2426120 | 3345 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154923311 | rs141127553 | C | T | 0.0216898 | 0.0232270 | 0.3504661 | 0.3503976 | 0.0569700 | 0.0309934 | 3345 |
23 | 154923374 | rs111332691 | T | A | -0.0200428 | 0.0251998 | 0.4264626 | 0.4264067 | 0.0457399 | 0.0116556 | 3345 |
23 | 154925045 | rs509981 | C | T | 0.0054424 | 0.0119441 | 0.6486658 | 0.6486368 | 0.2521760 | 0.3634440 | 3345 |
23 | 154925895 | rs538470 | C | T | 0.0078066 | 0.0122301 | 0.5233124 | 0.5232695 | 0.2482110 | 0.3634440 | 3345 |
23 | 154927581 | rs644138 | G | A | 0.0102305 | 0.0113469 | 0.3673314 | 0.3672631 | 0.3095370 | 0.4635760 | 3345 |
23 | 154929412 | rs557132 | C | T | 0.0056095 | 0.0119451 | 0.6386663 | 0.6386366 | 0.2520330 | 0.3568210 | 3345 |
23 | 154929637 | rs35185538 | CT | C | 0.0087655 | 0.0125826 | 0.4860792 | 0.4860302 | 0.2348110 | 0.3011920 | 3345 |
23 | 154929952 | rs4012982 | CAA | C | 0.0046189 | 0.0126187 | 0.7143614 | 0.7143387 | 0.2454930 | 0.3165560 | 3345 |
23 | 154930230 | rs781880 | A | G | 0.0063084 | 0.0119518 | 0.5976584 | 0.5976225 | 0.2519210 | 0.3618540 | 3345 |
23 | 154930487 | rs781879 | T | A | 0.0279522 | 0.0395475 | 0.4797401 | 0.4796904 | 0.0218471 | 0.1263580 | 3345 |
1 692794 rs530212009 CA C . PASS AF=0.112402 ES:SE:LP:AF:SS:ID 0.0315765:0.0184339:1.06141:0.112402:3345:1_692794_CA_C
1 693731 rs12238997 A G . PASS AF=0.117026 ES:SE:LP:AF:SS:ID 0.0355537:0.017487:1.37555:0.117026:3345:rs12238997
1 707522 rs371890604 G C . PASS AF=0.0975873 ES:SE:LP:AF:SS:ID 0.0387865:0.0198513:1.29411:0.0975873:3345:rs371890604
1 717587 rs144155419 G A . PASS AF=0.0168393 ES:SE:LP:AF:SS:ID 0.000524333:0.0455998:0.00400261:0.0168393:3345:rs144155419
1 730087 rs148120343 T C . PASS AF=0.0585521 ES:SE:LP:AF:SS:ID 0.0544886:0.0241:1.62292:0.0585521:3345:rs148120343
1 731718 rs58276399 T C . PASS AF=0.122947 ES:SE:LP:AF:SS:ID 0.0364195:0.0165944:1.5489:0.122947:3345:rs58276399
1 732032 rs61770163 A C . PASS AF=0.122879 ES:SE:LP:AF:SS:ID 0.0319719:0.0177296:1.14611:0.122879:3345:rs61770163
1 734349 rs141242758 T C . PASS AF=0.122014 ES:SE:LP:AF:SS:ID 0.0375004:0.0165808:1.62375:0.122014:3345:rs141242758
1 749963 rs529266287 T TAA . PASS AF=0.868538 ES:SE:LP:AF:SS:ID -0.0275784:0.0161719:1.05439:0.868538:3345:rs529266287
1 751343 rs28544273 T A . PASS AF=0.124236 ES:SE:LP:AF:SS:ID 0.0269185:0.0161054:1.02347:0.124236:3345:rs28544273
1 751488 rs200141114 G GA . PASS AF=0.141999 ES:SE:LP:AF:SS:ID 0.0208667:0.0161143:0.708991:0.141999:3345:rs200141114
1 751756 rs28527770 T C . PASS AF=0.124292 ES:SE:LP:AF:SS:ID 0.0268461:0.016091:1.02076:0.124292:3345:rs28527770
1 753405 rs3115860 C A . PASS AF=0.869637 ES:SE:LP:AF:SS:ID -0.0269561:0.0156767:1.06744:0.869637:3345:rs3115860
1 753425 rs3131970 T C . PASS AF=0.873655 ES:SE:LP:AF:SS:ID -0.0249154:0.0159128:0.929947:0.873655:3345:rs3131970
1 753541 rs2073813 G A . PASS AF=0.129651 ES:SE:LP:AF:SS:ID 0.0297101:0.0157414:1.22771:0.129651:3345:rs2073813
1 754105 rs12184325 C T . PASS AF=0.0415546 ES:SE:LP:AF:SS:ID 0.00169174:0.0270337:0.0222279:0.0415546:3345:rs12184325
1 754182 rs3131969 A G . PASS AF=0.869262 ES:SE:LP:AF:SS:ID -0.027364:0.0156563:1.09371:0.869262:3345:rs3131969
1 754192 rs3131968 A G . PASS AF=0.869262 ES:SE:LP:AF:SS:ID -0.0273225:0.0156555:1.09132:0.869262:3345:rs3131968
1 754334 rs3131967 T C . PASS AF=0.869256 ES:SE:LP:AF:SS:ID -0.0273447:0.0156548:1.09271:0.869256:3345:rs3131967
1 755890 rs3115858 A T . PASS AF=0.868938 ES:SE:LP:AF:SS:ID -0.0282427:0.0156176:1.15097:0.868938:3345:rs3115858
1 756434 rs61768170 G C . PASS AF=0.126814 ES:SE:LP:AF:SS:ID 0.0296017:0.0159946:1.19181:0.126814:3345:rs61768170
1 756604 rs3131962 A G . PASS AF=0.868759 ES:SE:LP:AF:SS:ID -0.0284479:0.0155886:1.16683:0.868759:3345:rs3131962
1 757640 rs3115853 G A . PASS AF=0.867793 ES:SE:LP:AF:SS:ID -0.0274138:0.0155703:1.10573:0.867793:3345:rs3115853
1 757734 rs4951929 C T . PASS AF=0.868643 ES:SE:LP:AF:SS:ID -0.0282095:0.0155925:1.15172:0.868643:3345:rs4951929
1 757936 rs4951862 C A . PASS AF=0.868646 ES:SE:LP:AF:SS:ID -0.0282117:0.0155935:1.15174:0.868646:3345:rs4951862
1 758144 rs3131956 A G . PASS AF=0.868658 ES:SE:LP:AF:SS:ID -0.0282263:0.0155946:1.15251:0.868658:3345:rs3131956
1 758626 rs3131954 C T . PASS AF=0.869132 ES:SE:LP:AF:SS:ID -0.0274875:0.0156338:1.10345:0.869132:3345:rs3131954
1 759293 rs10157329 T A . PASS AF=0.0979091 ES:SE:LP:AF:SS:ID 0.0362748:0.0185542:1.29535:0.0979091:3345:rs10157329
1 759837 rs3115851 T A . PASS AF=0.873294 ES:SE:LP:AF:SS:ID -0.0249551:0.0159011:0.933108:0.873294:3345:rs3115851
1 761732 rs2286139 C T . PASS AF=0.862376 ES:SE:LP:AF:SS:ID -0.027336:0.0155934:1.09862:0.862376:3345:rs2286139
1 761752 rs1057213 C T . PASS AF=0.868107 ES:SE:LP:AF:SS:ID -0.0267514:0.0157406:1.04907:0.868107:3345:rs1057213
1 762273 rs3115849 G A . PASS AF=0.865048 ES:SE:LP:AF:SS:ID -0.0289672:0.015767:1.17869:0.865048:3345:rs3115849
1 762485 rs12095200 C A . PASS AF=0.100185 ES:SE:LP:AF:SS:ID 0.0183092:0.0187921:0.481518:0.100185:3345:rs12095200
1 762589 rs3115848 G C . PASS AF=0.870606 ES:SE:LP:AF:SS:ID -0.0269124:0.0159659:1.03639:0.870606:3345:rs3115848
1 762592 rs3131950 C G . PASS AF=0.870606 ES:SE:LP:AF:SS:ID -0.0269111:0.0159658:1.03632:0.870606:3345:rs3131950
1 762601 rs3131949 T C . PASS AF=0.870601 ES:SE:LP:AF:SS:ID -0.0269105:0.0159658:1.03628:0.870601:3345:rs3131949
1 762632 rs3131948 T A . PASS AF=0.870733 ES:SE:LP:AF:SS:ID -0.0267084:0.0159646:1.02491:0.870733:3345:rs3131948
1 764191 rs7515915 T G . PASS AF=0.126593 ES:SE:LP:AF:SS:ID 0.0281901:0.0159759:1.1094:0.126593:3345:rs7515915
1 766007 rs61768174 A C . PASS AF=0.10536 ES:SE:LP:AF:SS:ID 0.0383336:0.0174638:1.54927:0.10536:3345:rs61768174
1 766105 rs2519015 T A . PASS AF=0.853371 ES:SE:LP:AF:SS:ID -0.0273432:0.0154902:1.11:0.853371:3345:rs2519015
1 768116 rs376645387 A AGTTTT . PASS AF=0.833954 ES:SE:LP:AF:SS:ID 0.00538659:0.0153028:0.139746:0.833954:3345:rs376645387
1 768253 rs2977608 A C . PASS AF=0.760547 ES:SE:LP:AF:SS:ID -0.0106334:0.0123502:0.409708:0.760547:3345:rs2977608
1 768448 rs12562034 G A . PASS AF=0.107623 ES:SE:LP:AF:SS:ID -0.0138238:0.0169693:0.381595:0.107623:3345:rs12562034
1 769138 rs59306077 CAT C . PASS AF=0.130185 ES:SE:LP:AF:SS:ID 0.0305494:0.0157262:1.28273:0.130185:3345:rs762168062
1 769223 rs60320384 C G . PASS AF=0.1298 ES:SE:LP:AF:SS:ID 0.0312928:0.0157138:1.3324:0.1298:3345:rs60320384
1 769963 rs7518545 G A . PASS AF=0.10685 ES:SE:LP:AF:SS:ID -0.0130917:0.0171095:0.3524:0.10685:3345:rs7518545
1 770886 rs371458725 G A . PASS AF=0.105814 ES:SE:LP:AF:SS:ID -0.0135032:0.0172576:0.362505:0.105814:3345:rs371458725
1 771410 rs2519006 C T . PASS AF=0.82751 ES:SE:LP:AF:SS:ID -0.0237877:0.0152451:0.925286:0.82751:3345:rs2519006
1 771823 rs2977605 T C . PASS AF=0.868744 ES:SE:LP:AF:SS:ID -0.028717:0.0156148:1.18051:0.868744:3345:rs2977605
1 771967 rs59066358 G A . PASS AF=0.12988 ES:SE:LP:AF:SS:ID 0.030898:0.0157022:1.30821:0.12988:3345:rs59066358