{
"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-30000_irnt,TotalVariants=13586281,VariantsNotRead=0,HarmonisedVariants=13586281,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-30000_irnt/ukb-d-30000_irnt_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2019-11-25T13:09:12.636014",
"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-30000_irnt/ukb-d-30000_irnt.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-30000_irnt/ukb-d-30000_irnt_data.vcf.gz; Date=Mon Nov 25 14:06:31 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-30000_irnt/ukb-d-30000_irnt.vcf.gz; Date=Sat May 9 17:22:48 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-30000_irnt/ukb-d-30000_irnt.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-30000_irnt/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 14:50:48 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ukb-d-import/processed/ukb-d-30000_irnt/ukb-d-30000_irnt.vcf.gz ...
Read summary statistics for 13586281 SNPs.
Dropped 12710 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: 0.1661 (0.0094)
Lambda GC: 1.7005
Mean Chi^2: 2.3979
Intercept: 1.1871 (0.0202)
Ratio: 0.1339 (0.0145)
Analysis finished at Mon Nov 25 14:52:40 2019
Total time elapsed: 1.0m:51.13s
{
"af_correlation": 0.9521,
"inflation_factor": 1.4333,
"mean_EFFECT": 0.0001,
"n": 350470,
"n_snps": 13586281,
"n_clumped_hits": 340,
"n_p_sig": 78437,
"n_mono": 0,
"n_ns": 1251793,
"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": 569192,
"n_est": 351806.07,
"ratio_se_n": 1.0019,
"mean_diff": 4.9029e-07,
"ratio_diff": 0.757,
"sd_y_est1": 0.9996,
"sd_y_est2": 1.0015,
"r2_sum1": 0.0811,
"r2_sum2": 0.0811,
"r2_sum3": 0.0808,
"r2_sum4": 0.0806,
"ldsc_nsnp_merge_refpanel_ld": 1283504,
"ldsc_nsnp_merge_regression_ld": 1283504,
"ldsc_observed_scale_h2_beta": 0.1661,
"ldsc_observed_scale_h2_se": 0.0094,
"ldsc_intercept_beta": 1.1871,
"ldsc_intercept_se": 0.0202,
"ldsc_lambda_gc": 1.7005,
"ldsc_mean_chisq": 2.3979,
"ldsc_ratio": 0.1338
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | TRUE |
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 | 13574235 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 100 | 0 | 57080 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 342 | 0 | 33337 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.051337e+00 | 6.184982e+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 | 7.902521e+07 | 5.591483e+07 | 3.02000e+02 | 3.293108e+07 | 7.013883e+07 | 1.148590e+08 | 2.492309e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.043000e-04 | 1.513960e-02 | -4.06143e-01 | -4.600000e-03 | 4.960000e-05 | 4.769400e-03 | 3.473290e-01 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.003320e-02 | 9.678400e-03 | 1.96240e-03 | 2.856500e-03 | 5.263800e-03 | 1.441880e-02 | 4.906680e-02 | ▇▂▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.404808e-01 | 3.058732e-01 | 0.00000e+00 | 1.596129e-01 | 4.193706e-01 | 7.062915e-01 | 1.000000e+00 | ▇▅▅▅▅ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.404803e-01 | 3.058734e-01 | 0.00000e+00 | 1.596123e-01 | 4.193707e-01 | 7.062921e-01 | 9.999999e-01 | ▇▅▅▅▅ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.908061e-01 | 2.544034e-01 | 1.00000e-03 | 7.430500e-03 | 6.003410e-02 | 2.953170e-01 | 9.990000e-01 | ▇▂▁▁▁ |
numeric | AF_reference | 569192 | 0.9581054 | NA | NA | NA | NA | NA | 1.963357e-01 | 2.471015e-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 | 3.504700e+05 | 0.000000e+00 | 3.50470e+05 | 3.504700e+05 | 3.504700e+05 | 3.504700e+05 | 3.504700e+05 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 692794 | rs530212009 | CA | C | -0.0055375 | 0.0041799 | 0.1852371 | 0.1852360 | 0.1106760 | 0.1894970 | 350470 |
1 | 693731 | rs12238997 | A | G | -0.0009142 | 0.0039495 | 0.8169489 | 0.8169491 | 0.1158570 | 0.1417730 | 350470 |
1 | 707522 | rs371890604 | G | C | -0.0027448 | 0.0044415 | 0.5365794 | 0.5365790 | 0.0972836 | 0.1293930 | 350470 |
1 | 717587 | rs144155419 | G | A | 0.0021720 | 0.0105860 | 0.8374340 | 0.8374334 | 0.0157162 | 0.0045926 | 350470 |
1 | 723329 | rs189787166 | A | T | 0.0026016 | 0.0313711 | 0.9339069 | 0.9339066 | 0.0017251 | 0.0003994 | 350470 |
1 | 730087 | rs148120343 | T | C | -0.0027130 | 0.0055005 | 0.6218577 | 0.6218560 | 0.0564931 | 0.0127796 | 350470 |
1 | 731718 | rs142557973 | T | C | -0.0010863 | 0.0037456 | 0.7717933 | 0.7717934 | 0.1217790 | 0.1543530 | 350470 |
1 | 732032 | rs61770163 | A | C | -0.0019736 | 0.0039960 | 0.6213882 | 0.6213882 | 0.1211750 | 0.1555510 | 350470 |
1 | 734349 | rs141242758 | T | C | -0.0012569 | 0.0037476 | 0.7373234 | 0.7373230 | 0.1210090 | 0.1525560 | 350470 |
1 | 740284 | rs61770167 | C | T | -0.0067488 | 0.0171456 | 0.6938634 | 0.6938634 | 0.0057872 | 0.0023962 | 350470 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154923311 | rs141127553 | C | T | 0.0121034 | 0.0043265 | 0.0051500 | 0.0051497 | 0.0561510 | 0.0309934 | 350470 |
23 | 154923374 | rs111332691 | T | A | -0.0002784 | 0.0047559 | 0.9533149 | 0.9533147 | 0.0447913 | 0.0116556 | 350470 |
23 | 154925045 | rs509981 | C | T | -0.0077464 | 0.0022887 | 0.0007126 | 0.0007125 | 0.2454590 | 0.3634440 | 350470 |
23 | 154925895 | rs538470 | C | T | -0.0074127 | 0.0023410 | 0.0015432 | 0.0015431 | 0.2418070 | 0.3634440 | 350470 |
23 | 154927581 | rs644138 | G | A | -0.0037898 | 0.0021521 | 0.0782492 | 0.0782493 | 0.3020060 | 0.4635760 | 350470 |
23 | 154929412 | rs557132 | C | T | -0.0076738 | 0.0022893 | 0.0008025 | 0.0008024 | 0.2453140 | 0.3568210 | 350470 |
23 | 154929637 | rs35185538 | CT | C | -0.0055217 | 0.0023896 | 0.0208478 | 0.0208473 | 0.2295360 | 0.3011920 | 350470 |
23 | 154929952 | rs4012982 | CAA | C | -0.0074941 | 0.0024079 | 0.0018563 | 0.0018561 | 0.2392700 | 0.3165560 | 350470 |
23 | 154930230 | rs781880 | A | G | -0.0076516 | 0.0022889 | 0.0008292 | 0.0008291 | 0.2457250 | 0.3618540 | 350470 |
23 | 154930487 | rs781879 | T | A | -0.0087754 | 0.0078550 | 0.2639229 | 0.2639228 | 0.0195300 | 0.1263580 | 350470 |
1 692794 rs530212009 CA C . PASS AF=0.110676 ES:SE:LP:AF:SS:ID -0.00553751:0.00417987:0.732272:0.110676:350470:1_692794_CA_C
1 693731 rs12238997 A G . PASS AF=0.115857 ES:SE:LP:AF:SS:ID -0.000914194:0.0039495:0.0878051:0.115857:350470:rs12238997
1 707522 rs371890604 G C . PASS AF=0.0972836 ES:SE:LP:AF:SS:ID -0.00274481:0.00444148:0.270366:0.0972836:350470:rs371890604
1 717587 rs144155419 G A . PASS AF=0.0157162 ES:SE:LP:AF:SS:ID 0.00217201:0.010586:0.0770494:0.0157162:350470:rs144155419
1 723329 rs189787166 A T . PASS AF=0.00172511 ES:SE:LP:AF:SS:ID 0.00260163:0.0313711:0.0296964:0.00172511:350470:rs189787166
1 730087 rs148120343 T C . PASS AF=0.0564931 ES:SE:LP:AF:SS:ID -0.00271298:0.00550053:0.206309:0.0564931:350470:rs148120343
1 731718 rs58276399 T C . PASS AF=0.121779 ES:SE:LP:AF:SS:ID -0.00108633:0.00374558:0.112499:0.121779:350470:rs58276399
1 732032 rs61770163 A C . PASS AF=0.121175 ES:SE:LP:AF:SS:ID -0.00197355:0.00399598:0.206637:0.121175:350470:rs61770163
1 734349 rs141242758 T C . PASS AF=0.121009 ES:SE:LP:AF:SS:ID -0.00125694:0.00374758:0.132342:0.121009:350470:rs141242758
1 740284 rs61770167 C T . PASS AF=0.00578718 ES:SE:LP:AF:SS:ID -0.00674881:0.0171456:0.158726:0.00578718:350470:rs61770167
1 742813 rs112573343 C T . PASS AF=0.00188411 ES:SE:LP:AF:SS:ID -0.0479915:0.0323597:0.859935:0.00188411:350470:rs112573343
1 749963 rs529266287 T TAA . PASS AF=0.869714 ES:SE:LP:AF:SS:ID 0.00183324:0.00369486:0.207761:0.869714:350470:rs529266287
1 750230 rs190826124 G C . PASS AF=0.00153229 ES:SE:LP:AF:SS:ID 0.00706708:0.0334251:0.0795886:0.00153229:350470:rs190826124
1 751343 rs28544273 T A . PASS AF=0.122937 ES:SE:LP:AF:SS:ID -0.0011343:0.00365906:0.121155:0.122937:350470:rs28544273
1 751488 rs200141114 G GA . PASS AF=0.142739 ES:SE:LP:AF:SS:ID -0.00108776:0.00361701:0.117124:0.142739:350470:rs200141114
1 751756 rs28527770 T C . PASS AF=0.123054 ES:SE:LP:AF:SS:ID -0.00128593:0.00365394:0.139727:0.123054:350470:rs28527770
1 753405 rs3115860 C A . PASS AF=0.87085 ES:SE:LP:AF:SS:ID 0.000441629:0.00356062:0.0451354:0.87085:350470:rs3115860
1 753425 rs3131970 T C . PASS AF=0.87545 ES:SE:LP:AF:SS:ID 0.00174141:0.00361967:0.200351:0.87545:350470:rs3131970
1 753541 rs2073813 G A . PASS AF=0.128671 ES:SE:LP:AF:SS:ID -3.70574e-05:0.00356955:0.00361224:0.128671:350470:rs2073813
1 754105 rs12184325 C T . PASS AF=0.0363369 ES:SE:LP:AF:SS:ID -0.00500292:0.00648087:0.356406:0.0363369:350470:rs12184325
1 754182 rs3131969 A G . PASS AF=0.870444 ES:SE:LP:AF:SS:ID 0.000297677:0.00355688:0.0299773:0.870444:350470:rs3131969
1 754192 rs3131968 A G . PASS AF=0.870545 ES:SE:LP:AF:SS:ID 0.000295625:0.00355845:0.0297508:0.870545:350470:rs3131968
1 754334 rs3131967 T C . PASS AF=0.870439 ES:SE:LP:AF:SS:ID 0.000305542:0.00355674:0.0307976:0.870439:350470:rs3131967
1 754433 rs150578204 G A . PASS AF=0.00504302 ES:SE:LP:AF:SS:ID 0.0204121:0.0182714:0.578518:0.00504302:350470:rs150578204
1 754458 rs142682604 G T . PASS AF=0.00500989 ES:SE:LP:AF:SS:ID 0.0204374:0.0183201:0.5774:0.00500989:350470:rs142682604
1 755435 rs184270342 T G . PASS AF=0.00558062 ES:SE:LP:AF:SS:ID 0.00896457:0.0176971:0.212917:0.00558062:350470:rs184270342
1 755890 rs3115858 A T . PASS AF=0.870523 ES:SE:LP:AF:SS:ID 0.00050619:0.0035505:0.0522571:0.870523:350470:rs3115858
1 756434 rs61768170 G C . PASS AF=0.126014 ES:SE:LP:AF:SS:ID -0.000697268:0.00362311:0.0719167:0.126014:350470:rs61768170
1 756604 rs3131962 A G . PASS AF=0.870086 ES:SE:LP:AF:SS:ID 0.000798874:0.00354194:0.0853639:0.870086:350470:rs3131962
1 757640 rs3115853 G A . PASS AF=0.869364 ES:SE:LP:AF:SS:ID 0.000335425:0.00353858:0.034102:0.869364:350470:rs3115853
1 757734 rs4951929 C T . PASS AF=0.87024 ES:SE:LP:AF:SS:ID 0.000676733:0.00354501:0.0712939:0.87024:350470:rs4951929
1 757936 rs4951862 C A . PASS AF=0.870246 ES:SE:LP:AF:SS:ID 0.000685089:0.00354526:0.072234:0.870246:350470:rs4951862
1 758144 rs3131956 A G . PASS AF=0.870255 ES:SE:LP:AF:SS:ID 0.000679771:0.00354537:0.0716298:0.870255:350470:rs3131956
1 758626 rs3131954 C T . PASS AF=0.870697 ES:SE:LP:AF:SS:ID 0.000636084:0.00355439:0.0665269:0.870697:350470:rs3131954
1 759293 rs10157329 T A . PASS AF=0.0988386 ES:SE:LP:AF:SS:ID -0.00274495:0.00413144:0.295481:0.0988386:350470:rs10157329
1 759600 rs545998451 AGT A . PASS AF=0.00647163 ES:SE:LP:AF:SS:ID 0.000122281:0.0159883:0.00265818:0.00647163:350470:1_759600_AGT_A
1 759837 rs3115851 T A . PASS AF=0.874605 ES:SE:LP:AF:SS:ID 0.0014072:0.00360746:0.157093:0.874605:350470:rs3115851
1 761732 rs2286139 C T . PASS AF=0.863994 ES:SE:LP:AF:SS:ID 0.0010512:0.00353762:0.115571:0.863994:350470:rs2286139
1 761752 rs1057213 C T . PASS AF=0.869378 ES:SE:LP:AF:SS:ID 0.00104886:0.00357195:0.114054:0.869378:350470:rs1057213
1 762273 rs3115849 G A . PASS AF=0.866336 ES:SE:LP:AF:SS:ID 0.000816053:0.00357278:0.0865417:0.866336:350470:rs3115849
1 762485 rs12095200 C A . PASS AF=0.0987496 ES:SE:LP:AF:SS:ID 0.000578028:0.00427853:0.0493757:0.0987496:350470:rs12095200
1 762589 rs3115848 G C . PASS AF=0.87152 ES:SE:LP:AF:SS:ID 0.0012912:0.00361342:0.142161:0.87152:350470:rs3115848
1 762592 rs3131950 C G . PASS AF=0.87152 ES:SE:LP:AF:SS:ID 0.00129151:0.00361342:0.142199:0.87152:350470:rs3131950
1 762601 rs3131949 T C . PASS AF=0.871519 ES:SE:LP:AF:SS:ID 0.00129373:0.00361349:0.142473:0.871519:350470:rs3131949
1 762632 rs3131948 T A . PASS AF=0.87189 ES:SE:LP:AF:SS:ID 0.00126202:0.00361553:0.138436:0.87189:350470:rs3131948
1 764191 rs7515915 T G . PASS AF=0.125595 ES:SE:LP:AF:SS:ID -0.00106501:0.00361841:0.114353:0.125595:350470:rs7515915
1 766007 rs61768174 A C . PASS AF=0.105424 ES:SE:LP:AF:SS:ID -0.00349562:0.00393978:0.426042:0.105424:350470:rs61768174
1 766105 rs2519015 T A . PASS AF=0.855335 ES:SE:LP:AF:SS:ID 0.000236488:0.0035367:0.0237931:0.855335:350470:rs2519015
1 767393 rs538667473 A C . PASS AF=0.00164754 ES:SE:LP:AF:SS:ID -0.0073259:0.0314254:0.0884866:0.00164754:350470:rs538667473
1 768116 rs376645387 A AGTTTT . PASS AF=0.838287 ES:SE:LP:AF:SS:ID -0.00131614:0.00348372:0.151453:0.838287:350470:rs376645387