{
"fileformat": "VCFv4.2",
"FILTER": "<ID=PASS,Description=\"All filters passed\">",
"INFO": "<ID=AF,Number=A,Type=Float,Description=\"Allele Frequency\">",
"FORMAT": "<ID=ES,Number=A,Type=Float,Description=\"Effect size estimate relative to the alternative allele\">",
"FORMAT.1": "<ID=SE,Number=A,Type=Float,Description=\"Standard error of effect size estimate\">",
"FORMAT.2": "<ID=LP,Number=A,Type=Float,Description=\"-log10 p-value for effect estimate\">",
"FORMAT.3": "<ID=AF,Number=A,Type=Float,Description=\"Alternate allele frequency in the association study\">",
"FORMAT.4": "<ID=SS,Number=A,Type=Float,Description=\"Sample size used to estimate genetic effect\">",
"FORMAT.5": "<ID=EZ,Number=A,Type=Float,Description=\"Z-score provided if it was used to derive the EFFECT and SE fields\">",
"FORMAT.6": "<ID=SI,Number=A,Type=Float,Description=\"Accuracy score of summary data imputation\">",
"FORMAT.7": "<ID=NC,Number=A,Type=Float,Description=\"Number of cases used to estimate genetic effect\">",
"FORMAT.8": "<ID=ID,Number=1,Type=String,Description=\"Study variant identifier\">",
"META": "<ID=TotalVariants,Number=1,Type=Integer,Description=\"Total number of variants in input\">",
"META.1": "<ID=VariantsNotRead,Number=1,Type=Integer,Description=\"Number of variants that could not be read\">",
"META.2": "<ID=HarmonisedVariants,Number=1,Type=Integer,Description=\"Total number of harmonised variants\">",
"META.3": "<ID=VariantsNotHarmonised,Number=1,Type=Integer,Description=\"Total number of variants that could not be harmonised\">",
"META.4": "<ID=SwitchedAlleles,Number=1,Type=Integer,Description=\"Total number of variants strand switched\">",
"META.5": "<ID=TotalControls,Number=1,Type=Integer,Description=\"Total number of controls in the association study\">",
"META.6": "<ID=TotalCases,Number=1,Type=Integer,Description=\"Total number of cases in the association study\">",
"META.7": "<ID=StudyType,Number=1,Type=String,Description=\"Type of GWAS study [Continuous or CaseControl]\">",
"SAMPLE": "<ID=ieu-a-75,TotalVariants=2465031,VariantsNotRead=0,HarmonisedVariants=2465031,VariantsNotHarmonised=0,SwitchedAlleles=0,StudyType=Continuous>",
"contig": "<ID=1,length=249250621,assembly=HG19/GRCh37>",
"contig.1": "<ID=2,length=243199373,assembly=HG19/GRCh37>",
"contig.2": "<ID=3,length=198022430,assembly=HG19/GRCh37>",
"contig.3": "<ID=4,length=191154276,assembly=HG19/GRCh37>",
"contig.4": "<ID=5,length=180915260,assembly=HG19/GRCh37>",
"contig.5": "<ID=6,length=171115067,assembly=HG19/GRCh37>",
"contig.6": "<ID=7,length=159138663,assembly=HG19/GRCh37>",
"contig.7": "<ID=8,length=146364022,assembly=HG19/GRCh37>",
"contig.8": "<ID=9,length=141213431,assembly=HG19/GRCh37>",
"contig.9": "<ID=10,length=135534747,assembly=HG19/GRCh37>",
"contig.10": "<ID=11,length=135006516,assembly=HG19/GRCh37>",
"contig.11": "<ID=12,length=133851895,assembly=HG19/GRCh37>",
"contig.12": "<ID=13,length=115169878,assembly=HG19/GRCh37>",
"contig.13": "<ID=14,length=107349540,assembly=HG19/GRCh37>",
"contig.14": "<ID=15,length=102531392,assembly=HG19/GRCh37>",
"contig.15": "<ID=16,length=90354753,assembly=HG19/GRCh37>",
"contig.16": "<ID=17,length=81195210,assembly=HG19/GRCh37>",
"contig.17": "<ID=18,length=78077248,assembly=HG19/GRCh37>",
"contig.18": "<ID=19,length=59128983,assembly=HG19/GRCh37>",
"contig.19": "<ID=20,length=63025520,assembly=HG19/GRCh37>",
"contig.20": "<ID=21,length=48129895,assembly=HG19/GRCh37>",
"contig.21": "<ID=22,length=51304566,assembly=HG19/GRCh37>",
"contig.22": "<ID=X,length=155270560,assembly=HG19/GRCh37>",
"contig.23": "<ID=Y,length=59373566,assembly=HG19/GRCh37>",
"contig.24": "<ID=MT,length=16569,assembly=HG19/GRCh37>",
"contig.25": "<ID=GL000207.1,length=4262,assembly=HG19/GRCh37>",
"contig.26": "<ID=GL000226.1,length=15008,assembly=HG19/GRCh37>",
"contig.27": "<ID=GL000229.1,length=19913,assembly=HG19/GRCh37>",
"contig.28": "<ID=GL000231.1,length=27386,assembly=HG19/GRCh37>",
"contig.29": "<ID=GL000210.1,length=27682,assembly=HG19/GRCh37>",
"contig.30": "<ID=GL000239.1,length=33824,assembly=HG19/GRCh37>",
"contig.31": "<ID=GL000235.1,length=34474,assembly=HG19/GRCh37>",
"contig.32": "<ID=GL000201.1,length=36148,assembly=HG19/GRCh37>",
"contig.33": "<ID=GL000247.1,length=36422,assembly=HG19/GRCh37>",
"contig.34": "<ID=GL000245.1,length=36651,assembly=HG19/GRCh37>",
"contig.35": "<ID=GL000197.1,length=37175,assembly=HG19/GRCh37>",
"contig.36": "<ID=GL000203.1,length=37498,assembly=HG19/GRCh37>",
"contig.37": "<ID=GL000246.1,length=38154,assembly=HG19/GRCh37>",
"contig.38": "<ID=GL000249.1,length=38502,assembly=HG19/GRCh37>",
"contig.39": "<ID=GL000196.1,length=38914,assembly=HG19/GRCh37>",
"contig.40": "<ID=GL000248.1,length=39786,assembly=HG19/GRCh37>",
"contig.41": "<ID=GL000244.1,length=39929,assembly=HG19/GRCh37>",
"contig.42": "<ID=GL000238.1,length=39939,assembly=HG19/GRCh37>",
"contig.43": "<ID=GL000202.1,length=40103,assembly=HG19/GRCh37>",
"contig.44": "<ID=GL000234.1,length=40531,assembly=HG19/GRCh37>",
"contig.45": "<ID=GL000232.1,length=40652,assembly=HG19/GRCh37>",
"contig.46": "<ID=GL000206.1,length=41001,assembly=HG19/GRCh37>",
"contig.47": "<ID=GL000240.1,length=41933,assembly=HG19/GRCh37>",
"contig.48": "<ID=GL000236.1,length=41934,assembly=HG19/GRCh37>",
"contig.49": "<ID=GL000241.1,length=42152,assembly=HG19/GRCh37>",
"contig.50": "<ID=GL000243.1,length=43341,assembly=HG19/GRCh37>",
"contig.51": "<ID=GL000242.1,length=43523,assembly=HG19/GRCh37>",
"contig.52": "<ID=GL000230.1,length=43691,assembly=HG19/GRCh37>",
"contig.53": "<ID=GL000237.1,length=45867,assembly=HG19/GRCh37>",
"contig.54": "<ID=GL000233.1,length=45941,assembly=HG19/GRCh37>",
"contig.55": "<ID=GL000204.1,length=81310,assembly=HG19/GRCh37>",
"contig.56": "<ID=GL000198.1,length=90085,assembly=HG19/GRCh37>",
"contig.57": "<ID=GL000208.1,length=92689,assembly=HG19/GRCh37>",
"contig.58": "<ID=GL000191.1,length=106433,assembly=HG19/GRCh37>",
"contig.59": "<ID=GL000227.1,length=128374,assembly=HG19/GRCh37>",
"contig.60": "<ID=GL000228.1,length=129120,assembly=HG19/GRCh37>",
"contig.61": "<ID=GL000214.1,length=137718,assembly=HG19/GRCh37>",
"contig.62": "<ID=GL000221.1,length=155397,assembly=HG19/GRCh37>",
"contig.63": "<ID=GL000209.1,length=159169,assembly=HG19/GRCh37>",
"contig.64": "<ID=GL000218.1,length=161147,assembly=HG19/GRCh37>",
"contig.65": "<ID=GL000220.1,length=161802,assembly=HG19/GRCh37>",
"contig.66": "<ID=GL000213.1,length=164239,assembly=HG19/GRCh37>",
"contig.67": "<ID=GL000211.1,length=166566,assembly=HG19/GRCh37>",
"contig.68": "<ID=GL000199.1,length=169874,assembly=HG19/GRCh37>",
"contig.69": "<ID=GL000217.1,length=172149,assembly=HG19/GRCh37>",
"contig.70": "<ID=GL000216.1,length=172294,assembly=HG19/GRCh37>",
"contig.71": "<ID=GL000215.1,length=172545,assembly=HG19/GRCh37>",
"contig.72": "<ID=GL000205.1,length=174588,assembly=HG19/GRCh37>",
"contig.73": "<ID=GL000219.1,length=179198,assembly=HG19/GRCh37>",
"contig.74": "<ID=GL000224.1,length=179693,assembly=HG19/GRCh37>",
"contig.75": "<ID=GL000223.1,length=180455,assembly=HG19/GRCh37>",
"contig.76": "<ID=GL000195.1,length=182896,assembly=HG19/GRCh37>",
"contig.77": "<ID=GL000212.1,length=186858,assembly=HG19/GRCh37>",
"contig.78": "<ID=GL000222.1,length=186861,assembly=HG19/GRCh37>",
"contig.79": "<ID=GL000200.1,length=187035,assembly=HG19/GRCh37>",
"contig.80": "<ID=GL000193.1,length=189789,assembly=HG19/GRCh37>",
"contig.81": "<ID=GL000194.1,length=191469,assembly=HG19/GRCh37>",
"contig.82": "<ID=GL000225.1,length=211173,assembly=HG19/GRCh37>",
"contig.83": "<ID=GL000192.1,length=547496,assembly=HG19/GRCh37>",
"gwas_harmonisation_command": "--json /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-75/ieu-a-75_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2020-02-04T08:10:25.959083",
"bcftools_annotateVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_annotateCommand": "annotate -a /mnt/storage/home/gh13047/mr-eve/vcf-reference-datasets/dbsnp/dbsnp.v153.b37.vcf.gz -c ID -o /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-75/ieu-a-75.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-75/ieu-a-75_data.vcf.gz; Date=Tue Feb 4 19:09:46 2020",
"bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ieu-a-75/ieu-a-75.vcf.gz; Date=Sun May 10 09:42:10 2020"
}
*********************************************************************
* LD Score Regression (LDSC)
* Version 1.0.1
* (C) 2014-2019 Brendan Bulik-Sullivan and Hilary Finucane
* Broad Institute of MIT and Harvard / MIT Department of Mathematics
* GNU General Public License v3
*********************************************************************
Call:
./ldsc.py \
--h2 /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-75/ieu-a-75.vcf.gz \
--ref-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/ \
--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-75/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/
Beginning analysis at Wed Feb 5 10:57:25 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-75/ieu-a-75.vcf.gz ...
Read summary statistics for 2465031 SNPs.
Reading reference panel LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read reference panel LD Scores for 1290028 SNPs.
Removing partitioned LD Scores with zero variance.
Reading regression weight LD Score from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1153117 SNPs remain.
After merging with regression SNP LD, 1153117 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.1102 (0.0084)
Lambda GC: 1.0219
Mean Chi^2: 1.0702
Intercept: 0.8943 (0.0072)
Ratio < 0 (usually indicates GC correction).
Analysis finished at Wed Feb 5 10:57:55 2020
Total time elapsed: 29.42s
{
"af_correlation": 0.9167,
"inflation_factor": 1,
"mean_EFFECT": 0.0001,
"n": 118004,
"n_snps": 2465031,
"n_clumped_hits": 23,
"n_p_sig": 608,
"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": 8897,
"n_miss_AF_reference": 20985,
"n_est": 114466.1697,
"ratio_se_n": 0.9849,
"mean_diff": -0,
"ratio_diff": 7.846,
"sd_y_est1": 1.2984,
"sd_y_est2": 1.2788,
"r2_sum1": 0.0122,
"r2_sum2": 0.0073,
"r2_sum3": 0.0075,
"r2_sum4": 0.0103,
"ldsc_nsnp_merge_refpanel_ld": 1153117,
"ldsc_nsnp_merge_regression_ld": 1153117,
"ldsc_observed_scale_h2_beta": 0.1102,
"ldsc_observed_scale_h2_se": 0.0084,
"ldsc_intercept_beta": 0.8943,
"ldsc_intercept_se": 0.0072,
"ldsc_lambda_gc": 1.0219,
"ldsc_mean_chisq": 1.0702,
"ldsc_ratio": -1.5057
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | FALSE |
n | FALSE |
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 | numeric.mean | numeric.sd | numeric.p0 | numeric.p25 | numeric.p50 | numeric.p75 | numeric.p100 | numeric.hist |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
character | ID | 0 | 1.0000000 | 3 | 42 | 0 | 2465031 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.585108e+00 | 5.656569e+00 | 1.0000 | 4.000000e+00 | 8.000000e+00 | 1.200000e+01 | 2.30000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.885599e+07 | 5.563896e+07 | 11523.0000 | 3.272057e+07 | 7.029249e+07 | 1.143191e+08 | 2.49219e+08 | ▇▇▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 9.930000e-05 | 1.019030e-02 | -0.2000 | -4.900000e-03 | 0.000000e+00 | 5.000000e-03 | 2.00000e-01 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.603300e-03 | 5.748700e-03 | 0.0043 | 5.600000e-03 | 6.500000e-03 | 9.100000e-03 | 8.60000e-02 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.962891e-01 | 2.908299e-01 | 0.0000 | 2.399999e-01 | 5.000000e-01 | 7.499995e-01 | 1.00000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.962114e-01 | 2.906902e-01 | 0.0000 | 2.433450e-01 | 4.961528e-01 | 7.478856e-01 | 1.00000e+00 | ▇▇▇▇▇ |
numeric | AF | 8897 | 0.9963907 | NA | NA | NA | NA | NA | 3.573615e-01 | 2.750534e-01 | 0.0083 | 1.167000e-01 | 2.917000e-01 | 5.583000e-01 | 9.91700e-01 | ▇▅▃▂▂ |
numeric | AF_reference | 20985 | 0.9914869 | NA | NA | NA | NA | NA | 3.606998e-01 | 2.561419e-01 | 0.0000 | 1.451680e-01 | 2.983230e-01 | 5.451280e-01 | 1.00000e+00 | ▇▆▃▃▂ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.546765e+04 | 8.250747e+03 | 50000.0000 | 8.388800e+04 | 8.749600e+04 | 8.755600e+04 | 1.18004e+05 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 785050 | rs2905062 | G | A | 0.0048 | 0.0090 | 0.5999997 | 0.5938029 | NA | 0.626997 | 61921 |
1 | 990380 | rs3121561 | C | T | 0.0027 | 0.0092 | 0.7700005 | 0.7691566 | 0.26670 | 0.343450 | 66409 |
1 | 998501 | rs3813193 | G | C | 0.0072 | 0.0093 | 0.4400003 | 0.4388163 | 0.15000 | 0.206669 | 62751 |
1 | 1003629 | rs4075116 | C | T | 0.0065 | 0.0068 | 0.3400001 | 0.3391317 | 0.73730 | 0.720647 | 84643 |
1 | 1005806 | rs3934834 | C | T | 0.0085 | 0.0085 | 0.3200000 | 0.3173105 | 0.11670 | 0.223442 | 69246 |
1 | 1017170 | rs3766193 | C | G | 0.0022 | 0.0063 | 0.7300002 | 0.7269344 | 0.56670 | 0.575479 | 85528 |
1 | 1017197 | rs3766192 | C | T | 0.0022 | 0.0060 | 0.7099994 | 0.7138677 | 0.57630 | 0.511182 | 85904 |
1 | 1017587 | rs3766191 | C | T | 0.0064 | 0.0089 | 0.4700002 | 0.4720786 | 0.09649 | 0.171126 | 69163 |
1 | 1018562 | rs9442371 | C | T | 0.0017 | 0.0059 | 0.7700005 | 0.7732429 | 0.59170 | 0.530152 | 85956 |
1 | 1018704 | rs9442372 | A | G | 0.0015 | 0.0059 | 0.8000000 | 0.7993122 | 0.60170 | 0.611022 | 85944 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 51216564 | rs9616970 | T | C | 0.0220 | 0.0120 | 0.0619998 | 0.0667530 | 0.1500 | 0.1563500 | 64793 |
22 | 51217134 | rs117417021 | A | G | 0.0230 | 0.0093 | 0.0120000 | 0.0133940 | 0.4417 | 0.2671730 | 56769 |
22 | 51222100 | rs114553188 | G | T | -0.0025 | 0.0150 | 0.8700001 | 0.8676323 | 0.0667 | 0.0880591 | 69456 |
22 | 51223637 | rs375798137 | G | A | -0.0026 | 0.0150 | 0.8600001 | 0.8623894 | 0.0667 | 0.0788738 | 69455 |
22 | 51229805 | rs9616985 | T | C | 0.0380 | 0.0180 | 0.0350002 | 0.0347628 | 0.0917 | 0.0730831 | 53788 |
23 | 35921591 | rs2204667 | C | G | 0.0043 | 0.0072 | 0.5500004 | 0.5503590 | 0.1667 | NA | 87529 |
23 | 51666786 | rs14115 | A | G | 0.0170 | 0.0120 | 0.1499999 | 0.1565804 | 0.0250 | NA | 81067 |
23 | 70163799 | rs1626496 | A | C | -0.0002 | 0.0100 | 0.9800000 | 0.9840434 | 0.0750 | NA | 87409 |
23 | 91415872 | rs6562597 | G | A | -0.0380 | 0.0200 | 0.0619998 | 0.0574331 | 0.0083 | 0.0021192 | 76441 |
23 | 118495837 | rs12882977 | G | A | -0.0045 | 0.0052 | 0.3900004 | 0.3868277 | 0.5167 | 0.2307280 | 87556 |
1 785050 rs2905062 G A . PASS . ES:SE:LP:SS:ID 0.0048:0.009:0.221849:61921:rs2905062
1 990380 rs3121561 C T . PASS AF=0.2667 ES:SE:LP:AF:SS:ID 0.0027:0.0092:0.113509:0.2667:66409:rs3121561
1 998501 rs3813193 G C . PASS AF=0.15 ES:SE:LP:AF:SS:ID 0.0072:0.0093:0.356547:0.15:62751:rs3813193
1 1003629 rs4075116 C T . PASS AF=0.7373 ES:SE:LP:AF:SS:ID 0.0065:0.0068:0.468521:0.7373:84643:rs4075116
1 1005806 rs3934834 C T . PASS AF=0.1167 ES:SE:LP:AF:SS:ID 0.0085:0.0085:0.49485:0.1167:69246:rs3934834
1 1017170 rs3766193 C G . PASS AF=0.5667 ES:SE:LP:AF:SS:ID 0.0022:0.0063:0.136677:0.5667:85528:rs3766193
1 1017197 rs3766192 C T . PASS AF=0.5763 ES:SE:LP:AF:SS:ID 0.0022:0.006:0.148742:0.5763:85904:rs3766192
1 1017587 rs3766191 C T . PASS AF=0.09649 ES:SE:LP:AF:SS:ID 0.0064:0.0089:0.327902:0.09649:69163:rs3766191
1 1018562 rs9442371 C T . PASS AF=0.5917 ES:SE:LP:AF:SS:ID 0.0017:0.0059:0.113509:0.5917:85956:rs9442371
1 1018704 rs9442372 A G . PASS AF=0.6017 ES:SE:LP:AF:SS:ID 0.0015:0.0059:0.09691:0.6017:85944:rs9442372
1 1021346 rs10907177 A G . PASS AF=0.1271 ES:SE:LP:AF:SS:ID 0.0087:0.0089:0.481486:0.1271:69138:rs10907177
1 1021415 rs3737728 A G . PASS AF=0.7167 ES:SE:LP:AF:SS:ID 0.0051:0.0063:0.376751:0.7167:86275:rs3737728
1 1021583 rs10907178 A C . PASS . ES:SE:LP:SS:ID 0.0072:0.0091:0.366532:66936:rs10907178
1 1021695 rs9442398 A G . PASS AF=0.725 ES:SE:LP:AF:SS:ID 0.0058:0.0065:0.431798:0.725:86136:rs9442398
1 1022037 rs6701114 C T . PASS AF=0.5667 ES:SE:LP:AF:SS:ID 0.0002:0.0063:0.0132283:0.5667:80395:rs6701114
1 1026707 rs4074137 C A . PASS AF=0.6 ES:SE:LP:AF:SS:ID -0.0011:0.0067:0.0604807:0.6:70462:rs4074137
1 1030565 rs6687776 C T . PASS AF=0.08333 ES:SE:LP:AF:SS:ID 0.0089:0.008:0.568636:0.08333:70276:rs6687776
1 1030633 rs6678318 G A . PASS AF=0.08621 ES:SE:LP:AF:SS:ID 0.0055:0.009:0.267606:0.08621:61689:rs6678318
1 1031540 rs9651273 A G . PASS AF=0.6583 ES:SE:LP:AF:SS:ID 0.001:0.0068:0.0555173:0.6583:68447:rs9651273
1 1036959 rs11579015 T C . PASS AF=0.05 ES:SE:LP:AF:SS:ID 0.0037:0.0095:0.154902:0.05:77643:rs11579015
1 1040026 rs6671356 T C . PASS AF=0.075 ES:SE:LP:AF:SS:ID 0.0084:0.0086:0.481486:0.075:72434:rs6671356
1 1046164 rs6666280 C T . PASS AF=0.06667 ES:SE:LP:AF:SS:ID 0.011:0.0089:0.657577:0.06667:75872:rs6666280
1 1048955 rs4970405 A G . PASS AF=0.05172 ES:SE:LP:AF:SS:ID 0.0033:0.0095:0.136677:0.05172:77587:rs4970405
1 1049950 rs12726255 A G . PASS AF=0.06667 ES:SE:LP:AF:SS:ID 0.012:0.0088:0.769551:0.06667:75865:rs12726255
1 1053452 rs4970409 G A . PASS AF=0.05 ES:SE:LP:AF:SS:ID 0.0066:0.01:0.29243:0.05:75409:rs4970409
1 1060174 rs7548798 C T . PASS AF=0.3981 ES:SE:LP:AF:SS:ID -0.0004:0.0088:0.0177288:0.3981:52286:rs7548798
1 1060235 rs7540009 G A . PASS AF=0.01667 ES:SE:LP:AF:SS:ID 0.019:0.019:0.522879:0.01667:63295:rs7540009
1 1060608 rs17160824 G A . PASS AF=0.05833 ES:SE:LP:AF:SS:ID 0.005:0.0099:0.21467:0.05833:77557:rs17160824
1 1061115 rs17160826 T C . PASS AF=0.05455 ES:SE:LP:AF:SS:ID 0.0074:0.01:0.337242:0.05455:77566:rs17160826
1 1061152 rs12748370 T C . PASS . ES:SE:LP:SS:ID 0.0078:0.01:0.346787:75364:rs12748370
1 1061166 rs11807848 T C . PASS AF=0.4123 ES:SE:LP:AF:SS:ID 0.0022:0.007:0.124939:0.4123:67693:rs11807848
1 1062015 rs9659914 C T . PASS AF=0.01667 ES:SE:LP:AF:SS:ID 0.027:0.021:0.69897:0.01667:56899:rs9659914
1 1062638 rs9442373 C A . PASS AF=0.5517 ES:SE:LP:AF:SS:ID -0.0037:0.0069:0.229148:0.5517:67231:rs9442373
1 1064535 rs6682475 G C . PASS AF=0.7542 ES:SE:LP:AF:SS:ID -0.011:0.01:0.552842:0.7542:54409:rs6682475
1 1064979 rs2298217 C T . PASS AF=0.08333 ES:SE:LP:AF:SS:ID 0.011:0.009:0.69897:0.08333:63881:rs2298217
1 1066403 rs10907182 T C . PASS AF=0.675 ES:SE:LP:AF:SS:ID -0.0069:0.0074:0.455932:0.675:65431:rs10907182
1 1071118 rs10907183 G C . PASS AF=0.6833 ES:SE:LP:AF:SS:ID -0.0076:0.008:0.468521:0.6833:62912:rs10907183
1 1077064 rs4970357 C A . PASS AF=0.92373 ES:SE:LP:AF:SS:ID -0.014:0.012:0.585027:0.92373:76306:rs4970357
1 1087683 rs9442380 T C . PASS AF=0.91228 ES:SE:LP:AF:SS:ID -0.0082:0.011:0.337242:0.91228:79309:rs9442380
1 1089262 rs4970358 A G . PASS AF=0.9661 ES:SE:LP:AF:SS:ID -0.015:0.014:0.522879:0.9661:79496:rs4970358
1 1097335 rs9442385 T G . PASS AF=0.94167 ES:SE:LP:AF:SS:ID -0.0085:0.011:0.366532:0.94167:84634:rs9442385
1 1099342 rs9660710 A C . PASS AF=0.94068 ES:SE:LP:AF:SS:ID -0.0055:0.01:0.221849:0.94068:85842:rs9660710
1 1100217 rs1891905 C T . PASS AF=0.95833 ES:SE:LP:AF:SS:ID 0.0023:0.015:0.0555173:0.95833:84428:rs1891905
1 1106473 rs4970420 G A . PASS AF=0.1441 ES:SE:LP:AF:SS:ID 0.0017:0.011:0.0555173:0.1441:51079:rs4970420
1 1113121 rs12092254 G A . PASS AF=0.1 ES:SE:LP:AF:SS:ID -0.016:0.015:0.552842:0.1:57472:rs12092254
1 1119858 rs1320565 C T . PASS AF=0.09167 ES:SE:LP:AF:SS:ID 0.0056:0.012:0.187087:0.09167:53950:rs1320565
1 1120431 rs1320571 G A . PASS AF=0.04167 ES:SE:LP:AF:SS:ID 0.027:0.018:0.920819:0.04167:71210:rs1320571
1 1121014 rs3813204 G A . PASS AF=0.1121 ES:SE:LP:AF:SS:ID 0.004:0.01:0.154902:0.1121:63101:rs3813204
1 1121794 rs11260549 G A . PASS AF=0.125 ES:SE:LP:AF:SS:ID 0.0039:0.0085:0.187087:0.125:75950:rs11260549
1 1124663 rs6684820 G A . PASS AF=0.2667 ES:SE:LP:AF:SS:ID -0.0037:0.0064:0.251812:0.2667:85195:rs6684820