{
"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-b:1917,TotalVariants=9851866,VariantsNotRead=0,HarmonisedVariants=9851866,VariantsNotHarmonised=0,SwitchedAlleles=9851866,TotalControls=460900,TotalCases=2033,StudyType=CaseControl>",
"contig": "<ID=1,length=249250621,assembly=GRCh37>",
"contig.1": "<ID=2,length=243199373,assembly=GRCh37>",
"contig.2": "<ID=3,length=198022430,assembly=GRCh37>",
"contig.3": "<ID=4,length=191154276,assembly=GRCh37>",
"contig.4": "<ID=5,length=180915260,assembly=GRCh37>",
"contig.5": "<ID=6,length=171115067,assembly=GRCh37>",
"contig.6": "<ID=7,length=159138663,assembly=GRCh37>",
"contig.7": "<ID=8,length=146364022,assembly=GRCh37>",
"contig.8": "<ID=9,length=141213431,assembly=GRCh37>",
"contig.9": "<ID=10,length=135534747,assembly=GRCh37>",
"contig.10": "<ID=11,length=135006516,assembly=GRCh37>",
"contig.11": "<ID=12,length=133851895,assembly=GRCh37>",
"contig.12": "<ID=13,length=115169878,assembly=GRCh37>",
"contig.13": "<ID=14,length=107349540,assembly=GRCh37>",
"contig.14": "<ID=15,length=102531392,assembly=GRCh37>",
"contig.15": "<ID=16,length=90354753,assembly=GRCh37>",
"contig.16": "<ID=17,length=81195210,assembly=GRCh37>",
"contig.17": "<ID=18,length=78077248,assembly=GRCh37>",
"contig.18": "<ID=19,length=59128983,assembly=GRCh37>",
"contig.19": "<ID=20,length=63025520,assembly=GRCh37>",
"contig.20": "<ID=21,length=48129895,assembly=GRCh37>",
"contig.21": "<ID=22,length=51304566,assembly=GRCh37>",
"contig.22": "<ID=X,length=155270560,assembly=GRCh37>",
"contig.23": "<ID=Y,length=59373566,assembly=GRCh37>",
"contig.24": "<ID=MT,length=16569,assembly=GRCh37>",
"contig.25": "<ID=GL000207.1,length=4262,assembly=GRCh37>",
"contig.26": "<ID=GL000226.1,length=15008,assembly=GRCh37>",
"contig.27": "<ID=GL000229.1,length=19913,assembly=GRCh37>",
"contig.28": "<ID=GL000231.1,length=27386,assembly=GRCh37>",
"contig.29": "<ID=GL000210.1,length=27682,assembly=GRCh37>",
"contig.30": "<ID=GL000239.1,length=33824,assembly=GRCh37>",
"contig.31": "<ID=GL000235.1,length=34474,assembly=GRCh37>",
"contig.32": "<ID=GL000201.1,length=36148,assembly=GRCh37>",
"contig.33": "<ID=GL000247.1,length=36422,assembly=GRCh37>",
"contig.34": "<ID=GL000245.1,length=36651,assembly=GRCh37>",
"contig.35": "<ID=GL000197.1,length=37175,assembly=GRCh37>",
"contig.36": "<ID=GL000203.1,length=37498,assembly=GRCh37>",
"contig.37": "<ID=GL000246.1,length=38154,assembly=GRCh37>",
"contig.38": "<ID=GL000249.1,length=38502,assembly=GRCh37>",
"contig.39": "<ID=GL000196.1,length=38914,assembly=GRCh37>",
"contig.40": "<ID=GL000248.1,length=39786,assembly=GRCh37>",
"contig.41": "<ID=GL000244.1,length=39929,assembly=GRCh37>",
"contig.42": "<ID=GL000238.1,length=39939,assembly=GRCh37>",
"contig.43": "<ID=GL000202.1,length=40103,assembly=GRCh37>",
"contig.44": "<ID=GL000234.1,length=40531,assembly=GRCh37>",
"contig.45": "<ID=GL000232.1,length=40652,assembly=GRCh37>",
"contig.46": "<ID=GL000206.1,length=41001,assembly=GRCh37>",
"contig.47": "<ID=GL000240.1,length=41933,assembly=GRCh37>",
"contig.48": "<ID=GL000236.1,length=41934,assembly=GRCh37>",
"contig.49": "<ID=GL000241.1,length=42152,assembly=GRCh37>",
"contig.50": "<ID=GL000243.1,length=43341,assembly=GRCh37>",
"contig.51": "<ID=GL000242.1,length=43523,assembly=GRCh37>",
"contig.52": "<ID=GL000230.1,length=43691,assembly=GRCh37>",
"contig.53": "<ID=GL000237.1,length=45867,assembly=GRCh37>",
"contig.54": "<ID=GL000233.1,length=45941,assembly=GRCh37>",
"contig.55": "<ID=GL000204.1,length=81310,assembly=GRCh37>",
"contig.56": "<ID=GL000198.1,length=90085,assembly=GRCh37>",
"contig.57": "<ID=GL000208.1,length=92689,assembly=GRCh37>",
"contig.58": "<ID=GL000191.1,length=106433,assembly=GRCh37>",
"contig.59": "<ID=GL000227.1,length=128374,assembly=GRCh37>",
"contig.60": "<ID=GL000228.1,length=129120,assembly=GRCh37>",
"contig.61": "<ID=GL000214.1,length=137718,assembly=GRCh37>",
"contig.62": "<ID=GL000221.1,length=155397,assembly=GRCh37>",
"contig.63": "<ID=GL000209.1,length=159169,assembly=GRCh37>",
"contig.64": "<ID=GL000218.1,length=161147,assembly=GRCh37>",
"contig.65": "<ID=GL000220.1,length=161802,assembly=GRCh37>",
"contig.66": "<ID=GL000213.1,length=164239,assembly=GRCh37>",
"contig.67": "<ID=GL000211.1,length=166566,assembly=GRCh37>",
"contig.68": "<ID=GL000199.1,length=169874,assembly=GRCh37>",
"contig.69": "<ID=GL000217.1,length=172149,assembly=GRCh37>",
"contig.70": "<ID=GL000216.1,length=172294,assembly=GRCh37>",
"contig.71": "<ID=GL000215.1,length=172545,assembly=GRCh37>",
"contig.72": "<ID=GL000205.1,length=174588,assembly=GRCh37>",
"contig.73": "<ID=GL000219.1,length=179198,assembly=GRCh37>",
"contig.74": "<ID=GL000224.1,length=179693,assembly=GRCh37>",
"contig.75": "<ID=GL000223.1,length=180455,assembly=GRCh37>",
"contig.76": "<ID=GL000195.1,length=182896,assembly=GRCh37>",
"contig.77": "<ID=GL000212.1,length=186858,assembly=GRCh37>",
"contig.78": "<ID=GL000222.1,length=186861,assembly=GRCh37>",
"contig.79": "<ID=GL000200.1,length=187035,assembly=GRCh37>",
"contig.80": "<ID=GL000193.1,length=189789,assembly=GRCh37>",
"contig.81": "<ID=GL000194.1,length=191469,assembly=GRCh37>",
"contig.82": "<ID=GL000225.1,length=211173,assembly=GRCh37>",
"contig.83": "<ID=GL000192.1,length=547496,assembly=GRCh37>",
"gwas_harmonisation_command": "--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/vcf_09_19b/bgzip_vcf/data.batch_20004_1534.vcf.gz --id UKB-b:1917 --data /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/raw-output/data.batch_20004_1534.txt.gz --cohort_cases 2033 --cohort_controls 460900 --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/human_g1k_v37.fasta --json /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/ukb_gwas.json; 1.1.1",
"file_date": "2019-09-13T13:27:31.789247",
"bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_viewCommand": "view -T ^/mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-1917/mac_discard.txt -Oz /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-1917/UKB-b-1917_raw.vcf.gz; Date=Thu Oct 17 12:37:29 2019",
"bcftools_viewCommand.1": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukb-b-1917/ukb-b-1917.vcf.gz; Date=Sun May 10 05:51:02 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/public/UKB-b-1917/UKB-b-1917_data.vcf.gz \
--ref-ld-chr ../reference/eur_w_ld_chr/ \
--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-1917/ldsc.txt \
--w-ld-chr ../reference/eur_w_ld_chr/
Beginning analysis at Thu Oct 17 14:41:01 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-1917/UKB-b-1917_data.vcf.gz ...
Read summary statistics for 3225637 SNPs.
Dropped 456 SNPs with duplicated rs numbers.
Reading reference panel LD Score from ../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 ../reference/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 796816 SNPs remain.
After merging with regression SNP LD, 796816 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0019 (0.0011)
Lambda GC: 1.0209
Mean Chi^2: 1.0148
Intercept: 0.9948 (0.0098)
Ratio < 0 (usually indicates GC correction).
Analysis finished at Thu Oct 17 14:41:44 2019
Total time elapsed: 42.74s
{
"af_correlation": 0.8337,
"inflation_factor": 1.0475,
"mean_EFFECT": 3.07e-07,
"n": "-Inf",
"n_snps": 9851866,
"n_clumped_hits": 0,
"n_p_sig": 0,
"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": 0,
"n_miss_AF_reference": 25796,
"n_est": "NA",
"ratio_se_n": "NA",
"mean_diff": "NaN",
"ratio_diff": "NaN",
"sd_y_est1": "NaN",
"sd_y_est2": "NA",
"r2_sum1": 0,
"r2_sum2": 0,
"r2_sum3": 0,
"r2_sum4": 0,
"ldsc_nsnp_merge_refpanel_ld": 796816,
"ldsc_nsnp_merge_regression_ld": 796816,
"ldsc_observed_scale_h2_beta": 0.0019,
"ldsc_observed_scale_h2_se": 0.0011,
"ldsc_intercept_beta": 0.9948,
"ldsc_intercept_se": 0.0098,
"ldsc_lambda_gc": 1.0209,
"ldsc_mean_chisq": 1.0148,
"ldsc_ratio": -0.3514
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | FALSE |
n | TRUE |
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 | logical.mean | logical.count | numeric.mean | numeric.sd | numeric.p0 | numeric.p25 | numeric.p50 | numeric.p75 | numeric.p100 | numeric.hist |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
character | ID | 0 | 1.0000000 | 3 | 58 | 0 | 3225184 | 0 | NA | NA | 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 | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
logical | N | 3225637 | 0.0000000 | NA | NA | NA | NA | NA | NaN | : | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 8.661137e+00 | 5.772083e+00 | 1.0000000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.200000e+01 | ▇▅▃▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 7.853012e+07 | 5.669975e+07 | 828.0000000 | 3.159544e+07 | 6.891619e+07 | 1.147697e+08 | 2.492013e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 3.000000e-07 | 1.542000e-04 | -0.0007500 | -1.028000e-04 | 3.000000e-07 | 1.035000e-04 | 7.786000e-04 | ▁▂▇▂▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 1.520000e-04 | 1.340000e-05 | 0.0001326 | 1.404000e-04 | 1.479000e-04 | 1.615000e-04 | 3.279000e-04 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.964139e-01 | 2.894913e-01 | 0.0000012 | 2.399999e-01 | 4.899999e-01 | 7.499995e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.964132e-01 | 2.894641e-01 | 0.0000012 | 2.449850e-01 | 4.949370e-01 | 7.467135e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.262434e-01 | 1.847295e-01 | 0.1721600 | 2.642990e-01 | 3.919230e-01 | 5.692450e-01 | 8.278400e-01 | ▇▆▅▃▃ |
numeric | AF_reference | 25796 | 0.9920028 | NA | NA | NA | NA | NA | NA | NA | 4.113446e-01 | 1.977528e-01 | 0.0000000 | 2.513980e-01 | 3.843850e-01 | 5.563100e-01 | 1.000000e+00 | ▃▇▆▃▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 49298 | rs200943160 | T | C | 0.0002745 | 0.0002440 | 0.2599998 | 0.2605873 | 0.623763 | 0.7821490 | NA |
1 | 54676 | rs2462492 | C | T | 0.0000836 | 0.0002418 | 0.7300002 | 0.7294342 | 0.400401 | NA | NA |
1 | 91536 | rs6702460 | G | T | 0.0002456 | 0.0002380 | 0.2999998 | 0.3020966 | 0.456851 | 0.4207270 | NA |
1 | 534192 | rs6680723 | C | T | -0.0000095 | 0.0002719 | 0.9699999 | 0.9722392 | 0.240960 | NA | NA |
1 | 706368 | rs55727773 | A | G | 0.0000627 | 0.0001688 | 0.7099994 | 0.7100985 | 0.515650 | 0.2751600 | NA |
1 | 763394 | rs369924889 | G | A | -0.0001282 | 0.0001979 | 0.5199996 | 0.5172211 | 0.706753 | 0.6176120 | NA |
1 | 768253 | rs2977608 | A | C | 0.0001826 | 0.0001615 | 0.2599998 | 0.2581414 | 0.761304 | 0.4894170 | NA |
1 | 776546 | rs12124819 | A | G | 0.0000639 | 0.0001804 | 0.7199992 | 0.7230875 | 0.265390 | 0.0756789 | NA |
1 | 798400 | rs10900604 | A | G | -0.0003132 | 0.0001723 | 0.0690001 | 0.0691612 | 0.206580 | 0.4105430 | NA |
1 | 798959 | rs11240777 | G | A | -0.0003100 | 0.0001724 | 0.0719996 | 0.0721662 | 0.206409 | 0.4099440 | NA |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 51180501 | rs5770999 | T | C | 0.0001538 | 0.0001589 | 0.3300000 | 0.3330741 | 0.713658 | 0.6369810 | NA |
22 | 51181919 | rs9616825 | G | C | 0.0001116 | 0.0001580 | 0.4799997 | 0.4802759 | 0.695471 | 0.6194090 | NA |
22 | 51182485 | rs6009961 | A | G | 0.0001385 | 0.0001594 | 0.3800004 | 0.3846510 | 0.715505 | 0.6383790 | NA |
22 | 51186143 | rs2879914 | T | C | -0.0000070 | 0.0001478 | 0.9599999 | 0.9623008 | 0.381826 | 0.2733630 | NA |
22 | 51186228 | rs3865766 | C | T | 0.0000638 | 0.0001440 | 0.6600001 | 0.6577060 | 0.451063 | 0.4532750 | NA |
22 | 51197266 | rs61290853 | A | G | -0.0000246 | 0.0001487 | 0.8700001 | 0.8687734 | 0.386333 | 0.4229230 | NA |
22 | 51198027 | rs34939255 | A | G | 0.0000566 | 0.0001683 | 0.7400005 | 0.7366678 | 0.254557 | 0.0984425 | NA |
22 | 51211106 | rs9628250 | T | C | -0.0000125 | 0.0001669 | 0.9400001 | 0.9403638 | 0.271547 | 0.1671330 | NA |
22 | 51212875 | rs2238837 | A | C | 0.0001237 | 0.0001586 | 0.4400003 | 0.4352513 | 0.331455 | 0.3724040 | NA |
22 | 51237063 | rs3896457 | T | C | -0.0000985 | 0.0001623 | 0.5400003 | 0.5440605 | 0.297971 | 0.2050720 | NA |
1 49298 rs10399793 T C . PASS AF=0.623763 ES:SE:LP:AF:ID 0.000274537:0.000244032:0.585027:0.623763:rs10399793
1 54676 rs2462492 C T . PASS AF=0.400401 ES:SE:LP:AF:ID 8.36192e-05:0.000241759:0.136677:0.400401:rs2462492
1 91536 rs6702460 G T . PASS AF=0.456851 ES:SE:LP:AF:ID 0.00024565:0.000238045:0.522879:0.456851:rs6702460
1 534192 rs6680723 C T . PASS AF=0.24096 ES:SE:LP:AF:ID -9.46235e-06:0.000271906:0.0132283:0.24096:rs6680723
1 706368 rs12029736 A G . PASS AF=0.51565 ES:SE:LP:AF:ID 6.27455e-05:0.000168796:0.148742:0.51565:rs12029736
1 763394 rs3115847 G A . PASS AF=0.706753 ES:SE:LP:AF:ID -0.000128165:0.000197897:0.283997:0.706753:rs3115847
1 768253 rs2977608 A C . PASS AF=0.761304 ES:SE:LP:AF:ID 0.000182646:0.00016152:0.585027:0.761304:rs2977608
1 776546 rs12124819 A G . PASS AF=0.26539 ES:SE:LP:AF:ID 6.39292e-05:0.00018042:0.142668:0.26539:rs12124819
1 798400 rs10900604 A G . PASS AF=0.20658 ES:SE:LP:AF:ID -0.000313152:0.000172311:1.16115:0.20658:rs10900604
1 798959 rs11240777 G A . PASS AF=0.206409 ES:SE:LP:AF:ID -0.00030996:0.000172385:1.14267:0.206409:rs11240777
1 808631 rs11240779 G A . PASS AF=0.772626 ES:SE:LP:AF:ID 0.000253972:0.000163984:0.920819:0.772626:rs11240779
1 808928 rs11240780 C T . PASS AF=0.772854 ES:SE:LP:AF:ID 0.000235282:0.000164261:0.823909:0.772854:rs11240780
1 814495 rs74461805 C A . PASS AF=0.340397 ES:SE:LP:AF:ID 6.35843e-05:0.000231453:0.107905:0.340397:rs74461805
1 830181 rs28444699 A G . PASS AF=0.697259 ES:SE:LP:AF:ID -0.000177792:0.000154849:0.60206:0.697259:rs28444699
1 831489 rs4970385 C T . PASS AF=0.705403 ES:SE:LP:AF:ID -6.70464e-05:0.000152047:0.180456:0.705403:rs4970385
1 831909 rs9697642 C T . PASS AF=0.705448 ES:SE:LP:AF:ID -6.52924e-05:0.000152042:0.173925:0.705448:rs9697642
1 832066 rs9697380 G C . PASS AF=0.705634 ES:SE:LP:AF:ID -6.61659e-05:0.000152049:0.180456:0.705634:rs9697380
1 832318 rs4500250 C A . PASS AF=0.705662 ES:SE:LP:AF:ID -6.35121e-05:0.000152065:0.167491:0.705662:rs4500250
1 832398 rs4553118 T C . PASS AF=0.730134 ES:SE:LP:AF:ID -0.000144428:0.000156209:0.443698:0.730134:rs4553118
1 832918 rs28765502 T C . PASS AF=0.294371 ES:SE:LP:AF:ID 6.38511e-05:0.000152058:0.173925:0.294371:rs28765502
1 833223 rs13303211 C T . PASS AF=0.236696 ES:SE:LP:AF:ID 5.01012e-05:0.00016189:0.119186:0.236696:rs13303211
1 833302 rs28752186 C T . PASS AF=0.236684 ES:SE:LP:AF:ID 5.04054e-05:0.000161892:0.119186:0.236684:rs28752186
1 833641 rs28594623 T C . PASS AF=0.239743 ES:SE:LP:AF:ID 5.89407e-05:0.000161373:0.148742:0.239743:rs28594623
1 833824 rs28484835 T C . PASS AF=0.236686 ES:SE:LP:AF:ID 5.06597e-05:0.00016189:0.124939:0.236686:rs28484835
1 833927 rs28593608 T C . PASS AF=0.212416 ES:SE:LP:AF:ID 0.000135311:0.000168263:0.376751:0.212416:rs28593608
1 834198 rs28385272 T C . PASS AF=0.212311 ES:SE:LP:AF:ID 0.000144694:0.000168292:0.408935:0.212311:rs28385272
1 834832 rs4411087 G C . PASS AF=0.237171 ES:SE:LP:AF:ID 5.39267e-05:0.000161766:0.130768:0.237171:rs4411087
1 834928 rs4422949 A G . PASS AF=0.212956 ES:SE:LP:AF:ID 0.000146263:0.000168053:0.420216:0.212956:rs4422949
1 834999 rs28570054 G A . PASS AF=0.212918 ES:SE:LP:AF:ID 0.00014297:0.000168088:0.39794:0.212918:rs28570054
1 835499 rs4422948 A G . PASS AF=0.241155 ES:SE:LP:AF:ID 3.93013e-06:0.000160637:0.00877392:0.241155:rs4422948
1 836529 rs28731045 C G . PASS AF=0.213538 ES:SE:LP:AF:ID 0.000129439:0.00016784:0.356547:0.213538:rs28731045
1 836896 rs28705752 T C . PASS AF=0.269503 ES:SE:LP:AF:ID 0.000119452:0.000155002:0.356547:0.269503:rs28705752
1 836924 rs72890788 G A . PASS AF=0.213508 ES:SE:LP:AF:ID 0.000130514:0.00016786:0.356547:0.213508:rs72890788
1 838387 rs4970384 T C . PASS AF=0.214583 ES:SE:LP:AF:ID 0.00014299:0.000167537:0.408935:0.214583:rs4970384
1 838555 rs4970383 C A . PASS AF=0.246197 ES:SE:LP:AF:ID 0.000203598:0.000159533:0.69897:0.246197:rs4970383
1 839103 rs28562941 A G . PASS AF=0.27001 ES:SE:LP:AF:ID 0.00015196:0.000155112:0.481486:0.27001:rs28562941
1 840753 rs4970382 T C . PASS AF=0.400106 ES:SE:LP:AF:ID 0.0002431:0.000140251:1.08092:0.400106:rs4970382
1 841085 rs1574243 C G . PASS AF=0.237094 ES:SE:LP:AF:ID 0.000257066:0.000162908:0.958607:0.237094:rs1574243
1 842013 rs7419119 T G . PASS AF=0.215384 ES:SE:LP:AF:ID 0.000144963:0.000167649:0.408935:0.215384:rs7419119
1 842362 rs28540380 C T . PASS AF=0.235321 ES:SE:LP:AF:ID 0.000155331:0.000165345:0.455932:0.235321:rs28540380
1 843405 rs11516185 A G . PASS AF=0.362599 ES:SE:LP:AF:ID -0.000200494:0.000174106:0.60206:0.362599:rs11516185
1 844300 rs61769713 C G . PASS AF=0.818815 ES:SE:LP:AF:ID 0.000222369:0.000178932:0.677781:0.818815:rs61769713
1 845283 rs7366404 G T . PASS AF=0.814502 ES:SE:LP:AF:ID 0.000204272:0.000177357:0.60206:0.814502:rs7366404
1 845635 rs117086422 C T . PASS AF=0.20543 ES:SE:LP:AF:ID 0.000182055:0.0001705:0.537602:0.20543:rs117086422
1 845938 rs57760052 G A . PASS AF=0.210865 ES:SE:LP:AF:ID 0.000170988:0.000168859:0.508638:0.210865:rs57760052
1 846078 rs28612348 C T . PASS AF=0.196786 ES:SE:LP:AF:ID 0.000127642:0.000173113:0.337242:0.196786:rs28612348
1 846338 rs4970334 A G . PASS AF=0.813832 ES:SE:LP:AF:ID 0.000203735:0.000177206:0.60206:0.813832:rs4970334
1 846398 rs58781670 G A . PASS AF=0.204448 ES:SE:LP:AF:ID 0.000202827:0.000171083:0.619789:0.204448:rs58781670
1 846489 rs4970333 T C . PASS AF=0.813925 ES:SE:LP:AF:ID 0.000201513:0.000177328:0.585027:0.813925:rs4970333
1 846808 rs4475691 C T . PASS AF=0.198378 ES:SE:LP:AF:ID 0.000119927:0.000172621:0.309804:0.198378:rs4475691