{
"fileformat": "VCFv4.2",
"FILTER": "<ID=PASS,Description=\"All filters passed\">",
"FORMAT": "<ID=AF,Number=A,Type=Float,Description=\"Alternate allele frequency in the association study\">",
"FORMAT.1": "<ID=ES,Number=A,Type=Float,Description=\"Effect size estimate relative to the alternative allele\">",
"FORMAT.2": "<ID=EZ,Number=A,Type=Float,Description=\"Z-score provided if it was used to derive the EFFECT and SE fields\">",
"FORMAT.3": "<ID=ID,Number=1,Type=String,Description=\"Study variant identifier\">",
"FORMAT.4": "<ID=LP,Number=A,Type=Float,Description=\"-log10 p-value for effect estimate\">",
"FORMAT.5": "<ID=NC,Number=A,Type=Float,Description=\"Number of cases used to estimate genetic effect\">",
"FORMAT.6": "<ID=SE,Number=A,Type=Float,Description=\"Standard error of effect size estimate\">",
"FORMAT.7": "<ID=SI,Number=A,Type=Float,Description=\"Accuracy score of summary data imputation\">",
"FORMAT.8": "<ID=SS,Number=A,Type=Float,Description=\"Sample size used to estimate genetic effect\">",
"INFO": "<ID=AF,Number=A,Type=Float,Description=\"Allele Frequency\">",
"INFO.1": "<ID=ReverseComplementedAlleles,Number=0,Type=Flag,Description=\"The REF and the ALT alleles have been reverse complemented in liftover since the mapping from the previous reference to the current one was on the negative strand.\">",
"INFO.2": "<ID=SwappedAlleles,Number=0,Type=Flag,Description=\"The REF and the ALT alleles have been swapped in liftover due to changes in the reference. It is possible that not all INFO annotations reflect this swap, and in the genotypes, only the GT, PL, and AD fields have been modified. You should check the TAGS_TO_REVERSE parameter that was used during the LiftOver to be sure.\">",
"META": "<ID=HarmonisedVariants,Number=1,Type=Integer,Description=\"Total number of harmonised variants\">",
"META.1": "<ID=StudyType,Number=1,Type=String,Description=\"Type of GWAS study [Continuous or CaseControl]\">",
"META.2": "<ID=SwitchedAlleles,Number=1,Type=Integer,Description=\"Total number of variants strand switched\">",
"META.3": "<ID=TotalCases,Number=1,Type=Integer,Description=\"Total number of cases in the association study\">",
"META.4": "<ID=TotalControls,Number=1,Type=Integer,Description=\"Total number of controls in the association study\">",
"META.5": "<ID=TotalVariants,Number=1,Type=Integer,Description=\"Total number of variants in input\">",
"META.6": "<ID=VariantsNotHarmonised,Number=1,Type=Integer,Description=\"Total number of variants that could not be harmonised\">",
"META.7": "<ID=VariantsNotRead,Number=1,Type=Integer,Description=\"Number of variants that could not be read\">",
"SAMPLE": "<ID=EBI-a-GCST005413,TotalVariants=14277791,VariantsNotRead=0,HarmonisedVariants=14277791,VariantsNotHarmonised=0,SwitchedAlleles=0,TotalControls=57196.0,TotalCases=12931.0,StudyType=CaseControl>",
"contig": "<ID=1,length=249250621>",
"contig.1": "<ID=2,length=243199373>",
"contig.2": "<ID=3,length=198022430>",
"contig.3": "<ID=4,length=191154276>",
"contig.4": "<ID=5,length=180915260>",
"contig.5": "<ID=6,length=171115067>",
"contig.6": "<ID=7,length=159138663>",
"contig.7": "<ID=8,length=146364022>",
"contig.8": "<ID=9,length=141213431>",
"contig.9": "<ID=10,length=135534747>",
"contig.10": "<ID=11,length=135006516>",
"contig.11": "<ID=12,length=133851895>",
"contig.12": "<ID=13,length=115169878>",
"contig.13": "<ID=14,length=107349540>",
"contig.14": "<ID=15,length=102531392>",
"contig.15": "<ID=16,length=90354753>",
"contig.16": "<ID=17,length=81195210>",
"contig.17": "<ID=18,length=78077248>",
"contig.18": "<ID=19,length=59128983>",
"contig.19": "<ID=20,length=63025520>",
"contig.20": "<ID=21,length=48129895>",
"contig.21": "<ID=22,length=51304566>",
"contig.22": "<ID=X,length=155270560>",
"contig.23": "<ID=Y,length=59373566>",
"contig.24": "<ID=MT,length=16569>",
"contig.25": "<ID=GL000207.1,length=4262>",
"contig.26": "<ID=GL000226.1,length=15008>",
"contig.27": "<ID=GL000229.1,length=19913>",
"contig.28": "<ID=GL000231.1,length=27386>",
"contig.29": "<ID=GL000210.1,length=27682>",
"contig.30": "<ID=GL000239.1,length=33824>",
"contig.31": "<ID=GL000235.1,length=34474>",
"contig.32": "<ID=GL000201.1,length=36148>",
"contig.33": "<ID=GL000247.1,length=36422>",
"contig.34": "<ID=GL000245.1,length=36651>",
"contig.35": "<ID=GL000197.1,length=37175>",
"contig.36": "<ID=GL000203.1,length=37498>",
"contig.37": "<ID=GL000246.1,length=38154>",
"contig.38": "<ID=GL000249.1,length=38502>",
"contig.39": "<ID=GL000196.1,length=38914>",
"contig.40": "<ID=GL000248.1,length=39786>",
"contig.41": "<ID=GL000244.1,length=39929>",
"contig.42": "<ID=GL000238.1,length=39939>",
"contig.43": "<ID=GL000202.1,length=40103>",
"contig.44": "<ID=GL000234.1,length=40531>",
"contig.45": "<ID=GL000232.1,length=40652>",
"contig.46": "<ID=GL000206.1,length=41001>",
"contig.47": "<ID=GL000240.1,length=41933>",
"contig.48": "<ID=GL000236.1,length=41934>",
"contig.49": "<ID=GL000241.1,length=42152>",
"contig.50": "<ID=GL000243.1,length=43341>",
"contig.51": "<ID=GL000242.1,length=43523>",
"contig.52": "<ID=GL000230.1,length=43691>",
"contig.53": "<ID=GL000237.1,length=45867>",
"contig.54": "<ID=GL000233.1,length=45941>",
"contig.55": "<ID=GL000204.1,length=81310>",
"contig.56": "<ID=GL000198.1,length=90085>",
"contig.57": "<ID=GL000208.1,length=92689>",
"contig.58": "<ID=GL000191.1,length=106433>",
"contig.59": "<ID=GL000227.1,length=128374>",
"contig.60": "<ID=GL000228.1,length=129120>",
"contig.61": "<ID=GL000214.1,length=137718>",
"contig.62": "<ID=GL000221.1,length=155397>",
"contig.63": "<ID=GL000209.1,length=159169>",
"contig.64": "<ID=GL000218.1,length=161147>",
"contig.65": "<ID=GL000220.1,length=161802>",
"contig.66": "<ID=GL000213.1,length=164239>",
"contig.67": "<ID=GL000211.1,length=166566>",
"contig.68": "<ID=GL000199.1,length=169874>",
"contig.69": "<ID=GL000217.1,length=172149>",
"contig.70": "<ID=GL000216.1,length=172294>",
"contig.71": "<ID=GL000215.1,length=172545>",
"contig.72": "<ID=GL000205.1,length=174588>",
"contig.73": "<ID=GL000219.1,length=179198>",
"contig.74": "<ID=GL000224.1,length=179693>",
"contig.75": "<ID=GL000223.1,length=180455>",
"contig.76": "<ID=GL000195.1,length=182896>",
"contig.77": "<ID=GL000212.1,length=186858>",
"contig.78": "<ID=GL000222.1,length=186861>",
"contig.79": "<ID=GL000200.1,length=187035>",
"contig.80": "<ID=GL000193.1,length=189789>",
"contig.81": "<ID=GL000194.1,length=191469>",
"contig.82": "<ID=GL000225.1,length=211173>",
"contig.83": "<ID=GL000192.1,length=547496>",
"file_date": "2019-10-26T21:53:57.062874",
"gwas_harmonisation_command": "--json /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/processed/EBI-a-GCST005413/EBI-a-GCST005413_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/hg38/hg38.fa; 1.1.1",
"reference": "file:/mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta",
"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/ebi_gwas_import/processed/EBI-a-GCST005413/EBI-a-GCST005413.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/processed/EBI-a-GCST005413/EBI-a-GCST005413_data.vcf.gz; Date=Sat Oct 26 22:19:31 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/ebi-a-GCST005413/ebi-a-GCST005413.vcf.gz; Date=Sun May 10 03:14:23 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/ebi_gwas_import/processed/EBI-a-GCST005413/EBI-a-GCST005413.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/ebi_gwas_import/processed/EBI-a-GCST005413/ldsc.txt \
--snplist /data/ref/snplist.gz \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/
Beginning analysis at Sat Oct 26 22:44:18 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/processed/EBI-a-GCST005413/EBI-a-GCST005413.vcf.gz ...
and extracting SNPs specified in /data/ref/snplist.gz ...
Traceback (most recent call last):
File "./ldsc/ldsc.py", line 647, in <module>
sumstats.estimate_h2(args, log)
File "/mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/igd-hpc-pipeline/resources/gwas_processing/ldsc/ldscore/sumstats.py", line 330, in estimate_h2
args, log, args.h2)
File "/mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/igd-hpc-pipeline/resources/gwas_processing/ldsc/ldscore/sumstats.py", line 246, in _read_ld_sumstats
sumstats = _read_sumstats(args, log, fh, alleles=alleles, dropna=dropna)
File "/mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/igd-hpc-pipeline/resources/gwas_processing/ldsc/ldscore/sumstats.py", line 165, in _read_sumstats
sumstats = ps.sumstats(fh, alleles=alleles, dropna=dropna, slh=args.snplist)
File "/mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/igd-hpc-pipeline/resources/gwas_processing/ldsc/ldscore/parse.py", line 85, in sumstats
x = read_vcf(fh, alleles, slh)
File "/mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/igd-hpc-pipeline/resources/gwas_processing/ldsc/ldscore/parse.py", line 161, in read_vcf
with gzip.open(slh) as f:
File "/mnt/storage/home/gh13047/mr-eve/conda/ldsc/lib/python2.7/gzip.py", line 34, in open
return GzipFile(filename, mode, compresslevel)
File "/mnt/storage/home/gh13047/mr-eve/conda/ldsc/lib/python2.7/gzip.py", line 94, in __init__
fileobj = self.myfileobj = __builtin__.open(filename, mode or 'rb')
IOError: [Errno 2] No such file or directory: '/data/ref/snplist.gz'
Analysis finished at Sat Oct 26 22:45:51 2019
Total time elapsed: 1.0m:32.74s
{
"af_correlation": 0.0939,
"inflation_factor": 0.9696,
"mean_EFFECT": 0.0052,
"n": "-Inf",
"n_snps": 14277791,
"n_clumped_hits": 16,
"n_p_sig": 1437,
"n_mono": 0,
"n_ns": 964607,
"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": 1169703,
"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": "NA",
"ldsc_nsnp_merge_regression_ld": "NA",
"ldsc_observed_scale_h2_beta": "NA",
"ldsc_observed_scale_h2_se": "NA",
"ldsc_intercept_beta": "NA",
"ldsc_intercept_se": "NA",
"ldsc_lambda_gc": "NA",
"ldsc_mean_chisq": "NA",
"ldsc_ratio": "NA"
}
name | value |
---|---|
af_correlation | TRUE |
inflation_factor | FALSE |
n | TRUE |
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 | TRUE |
ldsc_intercept_beta | TRUE |
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 | 1.000000 | 3 | 59 | 0 | 14260288 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.000000 | 1 | 951 | 0 | 42688 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.000000 | 1 | 43 | 0 | 25888 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
logical | N | 14260316 | 0.000000 | NA | NA | NA | NA | NA | NaN | : | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 8.572234e+00 | 5.721590e+00 | 1.0000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.200000e+01 | ▇▅▃▂▂ |
numeric | POS | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 7.928099e+07 | 5.622108e+07 | 302.0000 | 3.293080e+07 | 7.016421e+07 | 1.149000e+08 | 2.492303e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 5.193000e-03 | 2.408410e-01 | -10.3203 | -2.900000e-02 | 1.900000e-03 | 3.700000e-02 | 8.563800e+00 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 1.554142e-01 | 2.672652e-01 | 0.0155 | 2.090000e-02 | 4.990000e-02 | 1.717000e-01 | 1.769860e+01 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 5.038564e-01 | 2.895532e-01 | 0.0000 | 2.541002e-01 | 5.065998e-01 | 7.550992e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 5.038561e-01 | 2.895529e-01 | 0.0000 | 2.541167e-01 | 5.065033e-01 | 7.549914e-01 | 9.999550e-01 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 4.466408e-01 | 4.111992e-01 | 0.0010 | 1.810000e-02 | 3.420000e-01 | 9.317000e-01 | 9.990000e-01 | ▇▂▁▂▆ |
numeric | AF_reference | 1169703 | 0.917975 | NA | NA | NA | NA | NA | NA | NA | 1.746858e-01 | 2.408390e-01 | 0.0000 | 4.393000e-03 | 5.630990e-02 | 2.573880e-01 | 1.000000e+00 | ▇▂▁▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 720468 | rs187315357 | G | A | 0.2877 | 0.6980 | 0.6802006 | 0.6802092 | 0.0042 | 0.0039936 | NA |
1 | 721290 | rs12565286 | G | C | -0.0929 | 0.1478 | 0.5295000 | 0.5296423 | 0.0316 | 0.0371406 | NA |
1 | 723891 | rs2977670 | G | C | 0.1483 | 0.1269 | 0.2426001 | 0.2425500 | 0.0420 | 0.7799520 | NA |
1 | 724321 | rs753164112 | TGAGTG | T | 0.5606 | 1.2404 | 0.6512999 | 0.6513043 | 0.0013 | NA | NA |
1 | 724324 | rs28692873 | G | A | -0.1067 | 0.0927 | 0.2501002 | 0.2497220 | 0.0399 | 0.0359425 | NA |
1 | 724621 | rs552249494 | CAAATG | C | -0.1613 | 0.1531 | 0.2918999 | 0.2920845 | 0.9698 | NA | NA |
1 | 725389 | rs375619475 | C | T | -0.1062 | 0.0946 | 0.2615002 | 0.2615983 | 0.0386 | 0.0363419 | NA |
1 | 726794 | rs28454925 | C | G | -0.1121 | 0.1495 | 0.4529998 | 0.4533554 | 0.9692 | 0.0279553 | NA |
1 | 729632 | rs116720794 | C | T | -0.0960 | 0.1470 | 0.5137005 | 0.5137168 | 0.0318 | 0.0099840 | NA |
1 | 729679 | rs4951859 | C | G | 0.0317 | 0.0410 | 0.4396995 | 0.4394213 | 0.8313 | 0.6399760 | NA |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 51225002 | rs184911728 | A | G | 0.9416 | 0.9025 | 0.2968001 | 0.2967982 | 0.9950 | 0.0027955 | NA |
22 | 51226620 | rs189416433 | T | A | 0.7473 | 0.8772 | 0.3943002 | 0.3942612 | 0.0034 | 0.0033946 | NA |
22 | 51228910 | rs145146472 | G | A | 0.0251 | 0.0423 | 0.5538995 | 0.5529265 | 0.3125 | 0.2276360 | NA |
22 | 51229805 | rs9616985 | T | C | 0.0329 | 0.0837 | 0.6944005 | 0.6942674 | 0.9306 | 0.0730831 | NA |
22 | 51229855 | rs144549712 | G | A | 0.0424 | 0.1234 | 0.7313007 | 0.7311486 | 0.1445 | 0.1160140 | NA |
22 | 51233300 | rs9616839 | C | T | 0.0207 | 0.0410 | 0.6139995 | 0.6136445 | 0.3755 | 0.3146960 | NA |
22 | 51236013 | rs200507571 | A | AT | -0.0067 | 0.0497 | 0.8926999 | 0.8927630 | 0.7634 | 0.1487620 | NA |
22 | 51237063 | rs3896457 | T | C | 0.0159 | 0.0425 | 0.7074993 | 0.7083168 | 0.6862 | 0.2050720 | NA |
22 | 51238249 | rs149733995 | A | C | 0.0203 | 0.0893 | 0.8198000 | 0.8201721 | 0.9280 | NA | NA |
22 | 51243297 | rs2905159 | A | T | 0.2818 | 0.2444 | 0.2489001 | 0.2488990 | 0.9682 | NA | NA |
1 720468 rs187315357 G A . PASS AF=0.0042 ES:SE:LP:AF:ID 0.2877:0.698:0.167363:0.0042:rs187315357
1 721290 rs12565286 G C . PASS AF=0.0316 ES:SE:LP:AF:ID -0.0929:0.1478:0.276134:0.0316:rs12565286
1 723891 rs2977670 G C . PASS AF=0.042 ES:SE:LP:AF:ID 0.1483:0.1269:0.615109:0.042:rs2977670
1 724321 rs753164112 TGAGTG T . PASS AF=0.0013 ES:SE:LP:AF:ID 0.5606:1.2404:0.186219:0.0013:rs753164112
1 724324 rs28692873 G A . PASS AF=0.0399 ES:SE:LP:AF:ID -0.1067:0.0927:0.601886:0.0399:rs28692873
1 724621 rs552249494 CAAATG C . PASS AF=0.9698 ES:SE:LP:AF:ID -0.1613:0.1531:0.534766:0.9698:rs552249494
1 725389 rs375619475 C T . PASS AF=0.0386 ES:SE:LP:AF:ID -0.1062:0.0946:0.582528:0.0386:rs375619475
1 726794 rs28454925 C G . PASS AF=0.9692 ES:SE:LP:AF:ID -0.1121:0.1495:0.343902:0.9692:rs28454925
1 729632 rs116720794 C T . PASS AF=0.0318 ES:SE:LP:AF:ID -0.096:0.147:0.28929:0.0318:rs116720794
1 729679 rs4951859 C G . PASS AF=0.8313 ES:SE:LP:AF:ID 0.0317:0.041:0.356844:0.8313:rs4951859
1 731718 rs58276399 T C . PASS AF=0.8687 ES:SE:LP:AF:ID 0.0215:0.0262:0.385841:0.8687:rs58276399
1 736289 rs79010578 T A . PASS AF=0.1421 ES:SE:LP:AF:ID -0.0456:0.0454:0.501689:0.1421:rs79010578
1 736736 rs10454457 A G . PASS AF=0.9613 ES:SE:LP:AF:ID -0.1056:0.0921:0.599289:0.9613:rs10454457
1 745642 rs200097270 AC A . PASS AF=0.0379 ES:SE:LP:AF:ID 0.0127:0.1292:0.0354575:0.0379:rs200097270
1 746727 rs144595511 G A . PASS AF=0.0375 ES:SE:LP:AF:ID 0.0309:0.1301:0.0902301:0.0375:rs144595511
1 747966 rs189811062 G A . PASS AF=0.0123 ES:SE:LP:AF:ID -0.0077:0.4241:0.00634337:0.0123:rs189811062
1 749963 rs529266287 T TAA . PASS AF=0.8623 ES:SE:LP:AF:ID -0.0076:0.0242:0.123263:0.8623:rs529266287
1 751456 rs141709959 T C . PASS AF=0.9603 ES:SE:LP:AF:ID -0.0671:0.1215:0.235899:0.9603:rs141709959
1 751756 rs28527770 T C . PASS AF=0.8637 ES:SE:LP:AF:ID -0.0264:0.0434:0.2652:0.8637:rs28527770
1 752307 rs201062411 AT A . PASS AF=0.0397 ES:SE:LP:AF:ID -0.1165:0.0872:0.740884:0.0397:rs201062411
1 752478 rs146277091 G A . PASS AF=0.0411 ES:SE:LP:AF:ID -0.1198:0.0866:0.778064:0.0411:rs146277091
1 752566 rs3094315 G A . PASS AF=0.1696 ES:SE:LP:AF:ID -0.0023:0.0234:0.0350336:0.1696:rs3094315
1 752593 rs372531941 T G . PASS AF=0.9613 ES:SE:LP:AF:ID -0.1491:0.0909:0.996109:0.9613:rs372531941
1 752617 rs149886465 C A . PASS AF=0.0423 ES:SE:LP:AF:ID -0.0998:0.0837:0.633017:0.0423:rs149886465
1 752721 rs3131972 A G . PASS AF=0.8248 ES:SE:LP:AF:ID -0.0026:0.0231:0.0411018:0.8248:rs3131972
1 752796 rs148649543 C T . PASS AF=0.0476 ES:SE:LP:AF:ID -0.0673:0.1046:0.28383:0.0476:rs148649543
1 752894 rs3131971 T C . PASS AF=0.83 ES:SE:LP:AF:ID 0.0515:0.0386:0.739929:0.83:rs3131971
1 753405 rs3115860 C A . PASS AF=0.1286 ES:SE:LP:AF:ID -0.0048:0.0259:0.0682879:0.1286:rs3115860
1 753474 rs2073814 C G . PASS AF=0.8149 ES:SE:LP:AF:ID 0.0548:0.0374:0.84436:0.8149:rs2073814
1 753541 rs2073813 G A . PASS AF=0.1424 ES:SE:LP:AF:ID 0.005:0.0232:0.0813407:0.1424:rs2073813
1 754063 rs12184312 G T . PASS AF=0.0434 ES:SE:LP:AF:ID -0.1191:0.0858:0.782253:0.0434:rs12184312
1 754105 rs12184325 C T . PASS AF=0.0371 ES:SE:LP:AF:ID -0.1036:0.0913:0.59159:0.0371:rs12184325
1 754121 rs12184335 T G . PASS AF=0.962 ES:SE:LP:AF:ID -0.034:0.1296:0.100727:0.962:rs12184335
1 754182 rs3131969 A G . PASS AF=0.8596 ES:SE:LP:AF:ID -0.0066:0.0231:0.110362:0.8596:rs3131969
1 754192 rs3131968 A G . PASS AF=0.8594 ES:SE:LP:AF:ID -0.0064:0.0231:0.106294:0.8594:rs3131968
1 754211 rs12184313 G A . PASS AF=0.042 ES:SE:LP:AF:ID -0.1069:0.0885:0.643592:0.042:rs12184313
1 754334 rs3131967 T C . PASS AF=0.8595 ES:SE:LP:AF:ID -0.0068:0.0232:0.114582:0.8595:rs3131967
1 754503 rs3115859 G A . PASS AF=0.1678 ES:SE:LP:AF:ID -0.001:0.023:0.0157428:0.1678:rs3115859
1 754629 rs10454459 A G . PASS AF=0.9579 ES:SE:LP:AF:ID -0.0882:0.0864:0.512862:0.9579:rs10454459
1 754671 rs10454460 A G . PASS AF=0.9625 ES:SE:LP:AF:ID -0.1066:0.0944:0.587036:0.9625:rs10454460
1 754954 rs10454454 G A . PASS AF=0.0479 ES:SE:LP:AF:ID -0.046:0.1059:0.177897:0.0479:rs10454454
1 754964 rs3131966 C T . PASS AF=0.1666 ES:SE:LP:AF:ID -0.0006:0.0236:0.00833099:0.1666:rs3131966
1 755240 rs181660517 T G . PASS AF=0.9878 ES:SE:LP:AF:ID -0.0788:0.4271:0.0687456:0.9878:rs181660517
1 755364 rs150361407 G C . PASS AF=0.0488 ES:SE:LP:AF:ID -0.0442:0.1067:0.168322:0.0488:rs150361407
1 755609 rs188739018 T C . PASS AF=0.9513 ES:SE:LP:AF:ID -0.0549:0.1052:0.220476:0.9513:rs188739018
1 755775 rs3131965 A G . PASS AF=0.8084 ES:SE:LP:AF:ID 0.0513:0.0387:0.732828:0.8084:rs3131965
1 755887 rs3131964 C G . PASS AF=0.9982 ES:SE:LP:AF:ID 0.0612:0.2457:0.0951763:0.9982:rs3131964
1 755890 rs3115858 A T . PASS AF=0.8612 ES:SE:LP:AF:ID -0.0094:0.0236:0.161592:0.8612:rs3115858
1 756604 rs3131962 A G . PASS AF=0.839 ES:SE:LP:AF:ID 0.0238:0.0411:0.249569:0.839:rs3131962
1 757640 rs3115853 G A . PASS AF=0.1414 ES:SE:LP:AF:ID -0.0079:0.0235:0.13324:0.1414:rs3115853