{
"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-1747_1,TotalVariants=13586530,VariantsNotRead=0,HarmonisedVariants=13586530,VariantsNotHarmonised=0,SwitchedAlleles=229,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-1747_1/ukb-d-1747_1_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2019-11-25T15:29:21.397720",
"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-1747_1/ukb-d-1747_1.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-1747_1/ukb-d-1747_1_data.vcf.gz; Date=Mon Nov 25 16:17:31 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-1747_1/ukb-d-1747_1.vcf.gz; Date=Sun May 10 13:00:15 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-1747_1/ukb-d-1747_1.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-1747_1/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 16:53:39 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-1747_1/ukb-d-1747_1.vcf.gz ...
Read summary statistics for 13586530 SNPs.
Dropped 12711 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, 1283504 SNPs remain.
After merging with regression SNP LD, 1283504 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.1305 (0.0284)
Lambda GC: 1.2496
Mean Chi^2: 1.9215
Intercept: 1.0881 (0.0148)
Ratio: 0.0956 (0.016)
Analysis finished at Mon Nov 25 16:55:58 2019
Total time elapsed: 2.0m:19.37s
{
"af_correlation": 0.9521,
"inflation_factor": 1.1596,
"mean_EFFECT": -0,
"n": 360270,
"n_snps": 13586530,
"n_clumped_hits": 167,
"n_p_sig": 31253,
"n_mono": 0,
"n_ns": 1251807,
"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": 569284,
"n_est": 361644.299,
"ratio_se_n": 1.0019,
"mean_diff": -0.0001,
"ratio_diff": 308.3643,
"sd_y_est1": 0.3185,
"sd_y_est2": 0.3191,
"r2_sum1": 0.0081,
"r2_sum2": 0.0794,
"r2_sum3": 0.0791,
"r2_sum4": 0.0766,
"ldsc_nsnp_merge_refpanel_ld": 1283504,
"ldsc_nsnp_merge_regression_ld": 1283504,
"ldsc_observed_scale_h2_beta": 0.1305,
"ldsc_observed_scale_h2_se": 0.0284,
"ldsc_intercept_beta": 1.0881,
"ldsc_intercept_se": 0.0148,
"ldsc_lambda_gc": 1.2496,
"ldsc_mean_chisq": 1.9215,
"ldsc_ratio": 0.0956
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | FALSE |
n | FALSE |
is_snpid_non_unique | TRUE |
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 | 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 | 13574483 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 100 | 0 | 57082 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 342 | 0 | 33336 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.051332e+00 | 6.184976e+00 | 1.00000e+00 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.300000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.902492e+07 | 5.591479e+07 | 3.02000e+02 | 3.293086e+07 | 7.013828e+07 | 1.148589e+08 | 2.492309e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | -2.500000e-05 | 4.583100e-03 | -1.16141e-01 | -1.306200e-03 | -1.870000e-05 | 1.253400e-03 | 1.550290e-01 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.152900e-03 | 3.041400e-03 | 6.17000e-04 | 8.976000e-04 | 1.654100e-03 | 4.531100e-03 | 1.529850e-02 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.747661e-01 | 2.971785e-01 | 0.00000e+00 | 2.112511e-01 | 4.676339e-01 | 7.327469e-01 | 1.000000e+00 | ▇▆▆▆▆ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.747656e-01 | 2.971787e-01 | 0.00000e+00 | 2.112499e-01 | 4.676333e-01 | 7.327463e-01 | 1.000000e+00 | ▇▆▆▆▆ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.908023e-01 | 2.544021e-01 | 1.00000e-03 | 7.429300e-03 | 6.003020e-02 | 2.953080e-01 | 9.989990e-01 | ▇▂▁▁▁ |
numeric | AF_reference | 569284 | 0.9580994 | NA | NA | NA | NA | NA | 1.963336e-01 | 2.471006e-01 | 0.00000e+00 | 5.591000e-03 | 8.426520e-02 | 3.081070e-01 | 1.000000e+00 | ▇▂▁▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.602700e+05 | 0.000000e+00 | 3.60270e+05 | 3.602700e+05 | 3.602700e+05 | 3.602700e+05 | 3.602700e+05 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 692794 | rs530212009 | CA | C | 0.0004502 | 0.0013138 | 0.7318566 | 0.7318553 | 0.1106500 | 0.1894970 | 360270 |
1 | 693731 | rs12238997 | A | G | 0.0002565 | 0.0012415 | 0.8363389 | 0.8363397 | 0.1158380 | 0.1417730 | 360270 |
1 | 707522 | rs371890604 | G | C | 0.0002504 | 0.0013958 | 0.8576390 | 0.8576392 | 0.0972910 | 0.1293930 | 360270 |
1 | 717587 | rs144155419 | G | A | 0.0010301 | 0.0033290 | 0.7570002 | 0.7570001 | 0.0157019 | 0.0045926 | 360270 |
1 | 723329 | rs189787166 | A | T | -0.0026846 | 0.0098362 | 0.7849048 | 0.7849034 | 0.0017308 | 0.0003994 | 360270 |
1 | 730087 | rs148120343 | T | C | 0.0002153 | 0.0017298 | 0.9009600 | 0.9009602 | 0.0564472 | 0.0127796 | 360270 |
1 | 731718 | rs142557973 | T | C | 0.0002549 | 0.0011774 | 0.8286089 | 0.8286081 | 0.1217410 | 0.1543530 | 360270 |
1 | 732032 | rs61770163 | A | C | 0.0002382 | 0.0012560 | 0.8495620 | 0.8495620 | 0.1211730 | 0.1555510 | 360270 |
1 | 734349 | rs141242758 | T | C | 0.0002999 | 0.0011780 | 0.7990199 | 0.7990202 | 0.1209690 | 0.1525560 | 360270 |
1 | 740284 | rs61770167 | C | T | -0.0104957 | 0.0053871 | 0.0513771 | 0.0513771 | 0.0057907 | 0.0023962 | 360270 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154923311 | rs141127553 | C | T | -0.0028714 | 0.0013609 | 0.0348698 | 0.0348692 | 0.0561460 | 0.0309934 | 360270 |
23 | 154923374 | rs111332691 | T | A | 0.0020543 | 0.0014954 | 0.1695028 | 0.1695029 | 0.0447845 | 0.0116556 | 360270 |
23 | 154925045 | rs509981 | C | T | 0.0001555 | 0.0007195 | 0.8289249 | 0.8289247 | 0.2456300 | 0.3634440 | 360270 |
23 | 154925895 | rs538470 | C | T | 0.0001367 | 0.0007360 | 0.8526480 | 0.8526473 | 0.2419380 | 0.3634440 | 360270 |
23 | 154927581 | rs644138 | G | A | -0.0005422 | 0.0006766 | 0.4228974 | 0.4228957 | 0.3021610 | 0.4635760 | 360270 |
23 | 154929412 | rs557132 | C | T | 0.0001697 | 0.0007197 | 0.8136220 | 0.8136213 | 0.2454820 | 0.3568210 | 360270 |
23 | 154929637 | rs35185538 | CT | C | 0.0007974 | 0.0007511 | 0.2883640 | 0.2883633 | 0.2297100 | 0.3011920 | 360270 |
23 | 154929952 | rs4012982 | CAA | C | 0.0002604 | 0.0007569 | 0.7308529 | 0.7308530 | 0.2394580 | 0.3165560 | 360270 |
23 | 154930230 | rs781880 | A | G | 0.0001656 | 0.0007195 | 0.8180130 | 0.8180131 | 0.2458930 | 0.3618540 | 360270 |
23 | 154930487 | rs781879 | T | A | 0.0026043 | 0.0024673 | 0.2911937 | 0.2911923 | 0.0195732 | 0.1263580 | 360270 |
1 692794 rs530212009 CA C . PASS AF=0.11065 ES:SE:LP:AF:SS:ID 0.000450202:0.00131385:0.135574:0.11065:360270:1_692794_CA_C
1 693731 rs12238997 A G . PASS AF=0.115838 ES:SE:LP:AF:SS:ID 0.00025646:0.00124147:0.0776177:0.115838:360270:rs12238997
1 707522 rs371890604 G C . PASS AF=0.097291 ES:SE:LP:AF:SS:ID 0.000250386:0.00139584:0.0666955:0.097291:360270:rs371890604
1 717587 rs144155419 G A . PASS AF=0.0157019 ES:SE:LP:AF:SS:ID 0.00103008:0.00332904:0.120904:0.0157019:360270:rs144155419
1 723329 rs189787166 A T . PASS AF=0.00173076 ES:SE:LP:AF:SS:ID -0.00268464:0.0098362:0.105183:0.00173076:360270:rs189787166
1 730087 rs148120343 T C . PASS AF=0.0564472 ES:SE:LP:AF:SS:ID 0.000215266:0.00172976:0.0452945:0.0564472:360270:rs148120343
1 731718 rs58276399 T C . PASS AF=0.121741 ES:SE:LP:AF:SS:ID 0.000254894:0.00117741:0.0816504:0.121741:360270:rs58276399
1 732032 rs61770163 A C . PASS AF=0.121173 ES:SE:LP:AF:SS:ID 0.000238229:0.00125597:0.0708049:0.121173:360270:rs61770163
1 734349 rs141242758 T C . PASS AF=0.120969 ES:SE:LP:AF:SS:ID 0.000299947:0.00117804:0.0974424:0.120969:360270:rs141242758
1 740284 rs61770167 C T . PASS AF=0.00579066 ES:SE:LP:AF:SS:ID -0.0104957:0.00538706:1.28923:0.00579066:360270:rs61770167
1 742813 rs112573343 C T . PASS AF=0.00187672 ES:SE:LP:AF:SS:ID 0.0128994:0.0101832:0.68771:0.00187672:360270:rs112573343
1 749963 rs529266287 T TAA . PASS AF=0.869737 ES:SE:LP:AF:SS:ID 0.000354388:0.00116136:0.119042:0.869737:360270:rs529266287
1 750230 rs190826124 G C . PASS AF=0.00153102 ES:SE:LP:AF:SS:ID 0.0111823:0.0105115:0.541492:0.00153102:360270:rs190826124
1 751343 rs28544273 T A . PASS AF=0.122922 ES:SE:LP:AF:SS:ID -0.000359262:0.00115019:0.122183:0.122922:360270:rs28544273
1 751488 rs200141114 G GA . PASS AF=0.142717 ES:SE:LP:AF:SS:ID -0.000589326:0.00113688:0.218819:0.142717:360270:rs200141114
1 751756 rs28527770 T C . PASS AF=0.123037 ES:SE:LP:AF:SS:ID -0.000348142:0.00114859:0.118153:0.123037:360270:rs28527770
1 753405 rs3115860 C A . PASS AF=0.87088 ES:SE:LP:AF:SS:ID 0.000107717:0.00111926:0.0346426:0.87088:360270:rs3115860
1 753425 rs3131970 T C . PASS AF=0.875466 ES:SE:LP:AF:SS:ID 0.000127693:0.00113783:0.0406509:0.875466:360270:rs3131970
1 753541 rs2073813 G A . PASS AF=0.128643 ES:SE:LP:AF:SS:ID -7.91592e-05:0.00112205:0.0251398:0.128643:360270:rs2073813
1 754105 rs12184325 C T . PASS AF=0.0363464 ES:SE:LP:AF:SS:ID -0.00288117:0.00203609:0.803948:0.0363464:360270:rs12184325
1 754182 rs3131969 A G . PASS AF=0.870474 ES:SE:LP:AF:SS:ID -1.15102e-06:0.0011181:0.000356702:0.870474:360270:rs3131969
1 754192 rs3131968 A G . PASS AF=0.870579 ES:SE:LP:AF:SS:ID 7.00293e-06:0.00111861:0.00217474:0.870579:360270:rs3131968
1 754334 rs3131967 T C . PASS AF=0.870471 ES:SE:LP:AF:SS:ID 2.10472e-05:0.00111805:0.00657215:0.870471:360270:rs3131967
1 754433 rs150578204 G A . PASS AF=0.00505041 ES:SE:LP:AF:SS:ID -0.00826653:0.00573598:0.825251:0.00505041:360270:rs150578204
1 754458 rs142682604 G T . PASS AF=0.00501736 ES:SE:LP:AF:SS:ID -0.00843823:0.00575132:0.84671:0.00501736:360270:rs142682604
1 755435 rs184270342 T G . PASS AF=0.00558719 ES:SE:LP:AF:SS:ID -0.00483492:0.00555873:0.415197:0.00558719:360270:rs184270342
1 755890 rs3115858 A T . PASS AF=0.870552 ES:SE:LP:AF:SS:ID 0.000193375:0.00111608:0.0642686:0.870552:360270:rs3115858
1 756434 rs61768170 G C . PASS AF=0.125993 ES:SE:LP:AF:SS:ID -0.000293013:0.00113881:0.0985689:0.125993:360270:rs61768170
1 756604 rs3131962 A G . PASS AF=0.870117 ES:SE:LP:AF:SS:ID 0.000206021:0.0011134:0.0689497:0.870117:360270:rs3131962
1 757640 rs3115853 G A . PASS AF=0.869406 ES:SE:LP:AF:SS:ID 0.000134639:0.00111238:0.043994:0.869406:360270:rs3115853
1 757734 rs4951929 C T . PASS AF=0.870272 ES:SE:LP:AF:SS:ID 0.000183199:0.00111436:0.0607719:0.870272:360270:rs4951929
1 757936 rs4951862 C A . PASS AF=0.870278 ES:SE:LP:AF:SS:ID 0.000181929:0.00111444:0.0603195:0.870278:360270:rs4951862
1 758144 rs3131956 A G . PASS AF=0.870287 ES:SE:LP:AF:SS:ID 0.000179804:0.00111447:0.0595687:0.870287:360270:rs3131956
1 758626 rs3131954 C T . PASS AF=0.870728 ES:SE:LP:AF:SS:ID 0.000166236:0.00111731:0.0546668:0.870728:360270:rs3131954
1 759293 rs10157329 T A . PASS AF=0.0988323 ES:SE:LP:AF:SS:ID -0.000208817:0.00129847:0.0593655:0.0988323:360270:rs10157329
1 759600 rs545998451 AGT A . PASS AF=0.00647755 ES:SE:LP:AF:SS:ID -0.00610413:0.00502175:0.64944:0.00647755:360270:1_759600_AGT_A
1 759837 rs3115851 T A . PASS AF=0.874628 ES:SE:LP:AF:SS:ID 0.000140998:0.00113398:0.0452526:0.874628:360270:rs3115851
1 761732 rs2286139 C T . PASS AF=0.864021 ES:SE:LP:AF:SS:ID 0.000344748:0.00111202:0.121165:0.864021:360270:rs2286139
1 761752 rs1057213 C T . PASS AF=0.869415 ES:SE:LP:AF:SS:ID 0.000150047:0.00112281:0.0488126:0.869415:360270:rs1057213
1 762273 rs3115849 G A . PASS AF=0.866359 ES:SE:LP:AF:SS:ID 0.00013012:0.00112304:0.042029:0.866359:360270:rs3115849
1 762485 rs12095200 C A . PASS AF=0.0987912 ES:SE:LP:AF:SS:ID -0.00123351:0.00134448:0.445024:0.0987912:360270:rs12095200
1 762589 rs3115848 G C . PASS AF=0.871548 ES:SE:LP:AF:SS:ID 0.000217443:0.00113585:0.0715099:0.871548:360270:rs3115848
1 762592 rs3131950 C G . PASS AF=0.871548 ES:SE:LP:AF:SS:ID 0.000217602:0.00113585:0.0715663:0.871548:360270:rs3131950
1 762601 rs3131949 T C . PASS AF=0.871547 ES:SE:LP:AF:SS:ID 0.000216376:0.00113587:0.0711322:0.871547:360270:rs3131949
1 762632 rs3131948 T A . PASS AF=0.871922 ES:SE:LP:AF:SS:ID 0.000189829:0.00113652:0.0618061:0.871922:360270:rs3131948
1 764191 rs7515915 T G . PASS AF=0.12557 ES:SE:LP:AF:SS:ID -0.000258063:0.0011374:0.0859156:0.12557:360270:rs7515915
1 766007 rs61768174 A C . PASS AF=0.105413 ES:SE:LP:AF:SS:ID -0.000282974:0.00123831:0.0865857:0.105413:360270:rs61768174
1 766105 rs2519015 T A . PASS AF=0.855359 ES:SE:LP:AF:SS:ID 0.000377944:0.00111159:0.13439:0.855359:360270:rs2519015
1 767393 rs538667473 A C . PASS AF=0.00165156 ES:SE:LP:AF:SS:ID -0.00335191:0.00985742:0.134406:0.00165156:360270:rs538667473
1 768116 rs376645387 A AGTTTT . PASS AF=0.838382 ES:SE:LP:AF:SS:ID 0.00174772:0.00109534:0.956316:0.838382:360270:rs376645387