{
"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-GCST006368,TotalVariants=27854527,VariantsNotRead=0,HarmonisedVariants=27364851,VariantsNotHarmonised=489676,SwitchedAlleles=193006,TotalControls=315347.0,StudyType=Continuous>",
"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": "2019-10-27T20:49:14.463111",
"gwas_harmonisation_command": "--json /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/processed/EBI-a-GCST006368/EBI-a-GCST006368_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-GCST006368/EBI-a-GCST006368.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/processed/EBI-a-GCST006368/EBI-a-GCST006368_data.vcf.gz; Date=Sun Oct 27 21:30:43 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-GCST006368/ebi-a-GCST006368.vcf.gz; Date=Sun May 10 23:20:28 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-GCST006368/EBI-a-GCST006368.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-GCST006368/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 Sun Oct 27 21:58:13 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/processed/EBI-a-GCST006368/EBI-a-GCST006368.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 Sun Oct 27 22:01:12 2019
Total time elapsed: 2.0m:58.42s
{
"af_correlation": -0.0176,
"inflation_factor": 1.0966,
"mean_EFFECT": 0.0014,
"n": "-Inf",
"n_snps": 27364851,
"n_clumped_hits": 152,
"n_p_sig": 10178,
"n_mono": 0,
"n_ns": 1106123,
"n_mac": 0,
"is_snpid_unique": false,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 53369,
"n_miss_AF_reference": 1101219,
"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 | 1.0000000 | 3 | 59 | 0 | 27154140 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 951 | 0 | 36465 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 42 | 0 | 21341 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
logical | N | 27155471 | 0.0000000 | NA | NA | NA | NA | NA | NaN | : | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 8.749657e+00 | 5.894119e+00 | 1.00000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.400000e+01 | ▇▆▃▃▁ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 7.897502e+07 | 5.602317e+07 | 56.00000 | 3.294395e+07 | 6.988115e+07 | 1.147142e+08 | 2.492395e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 1.440400e-03 | 1.000624e-01 | -2.10000 | -1.950000e-02 | 3.080000e-04 | 2.320000e-02 | 2.590000e+00 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 6.799740e-02 | 7.158000e-02 | 0.00244 | 7.530000e-03 | 4.670000e-02 | 1.020000e-01 | 2.000000e+00 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.854419e-01 | 2.944103e-01 | 0.00000 | 2.300001e-01 | 4.799997e-01 | 7.400005e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.854425e-01 | 2.943853e-01 | 0.00000 | 2.271583e-01 | 4.821986e-01 | 7.408646e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 53369 | 0.9980347 | NA | NA | NA | NA | NA | NA | NA | 5.265588e-01 | 3.305125e-01 | 0.00010 | 1.506000e-01 | 6.911000e-01 | 7.167000e-01 | 9.999000e-01 | ▅▁▁▇▂ |
numeric | AF_reference | 1101219 | 0.9594476 | NA | NA | NA | NA | NA | NA | NA | 9.768710e-02 | 2.012937e-01 | 0.00000 | 1.996800e-03 | 8.386600e-03 | 6.589460e-02 | 1.000000e+00 | ▇▁▁▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 10583 | rs58108140 | G | A | -0.02050 | 0.01010 | 0.0420001 | 0.0423867 | 0.6338 | NA | NA |
1 | 10611 | rs189107123 | C | G | -0.03280 | 0.08760 | 0.7099994 | 0.7080850 | 0.9351 | NA | NA |
1 | 10711 | rs1434325972 | A | G | -0.03850 | 0.03920 | 0.3300000 | 0.3260295 | 0.2811 | NA | NA |
1 | 10880 | rs1351904884 | G | A | 0.25500 | 0.09340 | 0.0063000 | 0.0063297 | 0.0014 | NA | NA |
1 | 13624 | rs1304990809 | C | G | 0.00307 | 0.00737 | 0.6800001 | 0.6770050 | 0.5692 | NA | NA |
1 | 13957 | rs77270114 | TC | T | 0.04630 | 0.09940 | 0.6400000 | 0.6413624 | 0.9366 | NA | NA |
1 | 14971 | rs1238549125 | C | T | 0.11400 | 0.14400 | 0.4299995 | 0.4285551 | 0.0304 | NA | NA |
1 | 15340 | rs1477171760 | G | A | 0.01070 | 0.05060 | 0.8300000 | 0.8325264 | 0.7207 | NA | NA |
1 | 15761 | rs1269189092 | A | G | 0.00122 | 0.00739 | 0.8700001 | 0.8688748 | 0.6033 | NA | NA |
1 | 15811 | rs1359290710 | T | C | -0.00451 | 0.00771 | 0.5600000 | 0.5585782 | 0.4418 | NA | NA |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
24 | 21936138 | rs2032609 | C | T | 0.039700 | 0.06370 | 0.5300002 | 0.5331308 | 0.0212 | NA | NA |
24 | 22003770 | rs9786678 | A | G | -0.029600 | 0.01610 | 0.0659994 | 0.0659874 | 0.4793 | 0.6975 | NA |
24 | 22100087 | rs17250275 | T | C | 0.005390 | 0.00731 | 0.4600002 | 0.4609119 | 0.1710 | 0.0397 | NA |
24 | 22513726 | rs3906451 | A | C | -0.000303 | 0.00869 | 0.9699999 | 0.9721853 | 0.0983 | NA | NA |
24 | 22601068 | rs9785928 | C | T | 0.001300 | 0.00579 | 0.8200001 | 0.8223488 | 0.4260 | 0.7575 | NA |
24 | 22746786 | rs17323322 | T | C | 0.005580 | 0.03110 | 0.8600001 | 0.8576070 | 0.0965 | 0.0268 | NA |
24 | 22749853 | rs13447352 | A | C | -0.000425 | 0.01040 | 0.9699999 | 0.9674032 | 0.0709 | 0.0616 | NA |
24 | 22918577 | rs16980548 | C | T | -0.005770 | 0.01060 | 0.5800000 | 0.5862078 | 0.0807 | 0.2612 | NA |
24 | 23443971 | rs17842518 | G | T | 0.003980 | 0.01210 | 0.7400005 | 0.7422119 | 0.0585 | 0.2612 | NA |
24 | 23984056 | rs1276034 | A | G | -0.021900 | 0.01580 | 0.1700000 | 0.1657237 | 0.5916 | 0.8248 | NA |
1 10583 rs58108140 G A . PASS AF=0.6338 ES:SE:LP:AF:ID -0.0205:0.0101:1.37675:0.6338:rs58108140
1 10611 rs189107123 C G . PASS AF=0.9351 ES:SE:LP:AF:ID -0.0328:0.0876:0.148742:0.9351:rs189107123
1 10711 rs1434325972 A G . PASS AF=0.2811 ES:SE:LP:AF:ID -0.0385:0.0392:0.481486:0.2811:rs1434325972
1 10880 rs1351904884 G A . PASS AF=0.0014 ES:SE:LP:AF:ID 0.255:0.0934:2.20066:0.0014:rs1351904884
1 13624 rs1304990809 C G . PASS AF=0.5692 ES:SE:LP:AF:ID 0.00307:0.00737:0.167491:0.5692:rs1304990809
1 13957 rs77270114 TC T . PASS AF=0.9366 ES:SE:LP:AF:ID 0.0463:0.0994:0.19382:0.9366:rs201747181
1 14971 rs1238549125 C T . PASS AF=0.0304 ES:SE:LP:AF:ID 0.114:0.144:0.366532:0.0304:rs1238549125
1 15340 rs1477171760 G A . PASS AF=0.7207 ES:SE:LP:AF:ID 0.0107:0.0506:0.0809219:0.7207:rs1477171760
1 15761 rs1269189092 A G . PASS AF=0.6033 ES:SE:LP:AF:ID 0.00122:0.00739:0.0604807:0.6033:rs1269189092
1 15811 rs1359290710 T C . PASS AF=0.4418 ES:SE:LP:AF:ID -0.00451:0.00771:0.251812:0.4418:rs1359290710
1 15850 rs575961614 G A . PASS AF=0.9402 ES:SE:LP:AF:ID -0.0549:0.0883:0.275724:0.9402:rs575961614
1 15893 rs555382915 T C . PASS AF=0.389 ES:SE:LP:AF:ID -0.00312:0.00777:0.161151:0.389:rs555382915
1 16016 rs1438306001 G A . PASS AF=0.9868 ES:SE:LP:AF:ID 0.0641:0.331:0.0705811:0.9868:rs1438306001
1 16296 rs1196752759 G A . PASS AF=0.9849 ES:SE:LP:AF:ID 0.417:0.254:1:0.9849:rs1196752759
1 16876 rs1309054513 C T . PASS AF=0.6609 ES:SE:LP:AF:ID -0.00168:0.012:0.05061:0.6609:rs1309054513
1 17661 rs1199908028 G A . PASS AF=0.0014 ES:SE:LP:AF:ID 0.0172:0.109:0.0604807:0.0014:rs1199908028
1 30923 rs806731 G T . PASS AF=0.2787 ES:SE:LP:AF:ID 0.00287:0.0219:0.0457575:0.2787:rs806731
1 46402 rs1553121056 C CTGT . PASS AF=0.9573 ES:SE:LP:AF:ID 0.159:0.151:0.537602:0.9573:rs199681827
1 47190 rs200430748 G GA . PASS AF=0.9241 ES:SE:LP:AF:ID -0.0144:0.0836:0.0655015:0.9241:rs200430748
1 47869 rs1169148240 G A . PASS AF=0.4086 ES:SE:LP:AF:ID -0.0178:0.00878:1.36653:0.4086:rs1169148240
1 51479 rs116400033 T A . PASS AF=0.6418 ES:SE:LP:AF:ID -0.0257:0.0104:1.88606:0.6418:rs116400033
1 51954 rs185832753 G C . PASS AF=0.0008 ES:SE:LP:AF:ID 0.0475:0.151:0.124939:0.0008:rs185832753
1 52144 rs190291950 T A . PASS AF=0.9436 ES:SE:LP:AF:ID 0.0261:0.113:0.0861861:0.9436:rs190291950
1 52185 rs201374420 TTAA T . PASS AF=0.7171 ES:SE:LP:AF:ID -0.0677:0.0595:0.585027:0.7171:rs201374420
1 52238 rs2691277 T G . PASS AF=0.1273 ES:SE:LP:AF:ID -0.0189:0.0257:0.337242:0.1273:rs2691277
1 53215 rs1361133293 G A . PASS AF=0.6091 ES:SE:LP:AF:ID 0.00377:0.00779:0.200659:0.6091:rs1361133293
1 53234 rs199502715 CAT C . PASS AF=0.9526 ES:SE:LP:AF:ID -0.017:0.117:0.0555173:0.9526:rs199502715
1 54353 rs140052487 C A . PASS AF=0.9505 ES:SE:LP:AF:ID -0.0542:0.178:0.119186:0.9505:rs140052487
1 54421 rs146477069 A G . PASS AF=0.895 ES:SE:LP:AF:ID 0.0856:0.0447:1.25181:0.895:rs146477069
1 54490 rs141149254 G A . PASS AF=0.6602 ES:SE:LP:AF:ID -0.0267:0.0117:1.65758:0.6602:rs141149254
1 54676 rs2462492 C T . PASS AF=0.6474 ES:SE:LP:AF:ID 0.0273:0.0108:1.92082:0.6474:rs2462492
1 54753 rs143174675 T G . PASS AF=0.6884 ES:SE:LP:AF:ID 0.0739:0.0219:3.12494:0.6884:rs143174675
1 55164 rs3091274 C A . PASS AF=0.1206 ES:SE:LP:AF:ID -0.03:0.0271:0.568636:0.1206:rs3091274
1 55249 rs200769871 C CTATGG . PASS AF=0.9137 ES:SE:LP:AF:ID 0.118:0.0494:1.76955:0.9137:rs200769871
1 55299 rs10399749 C T . PASS AF=0.7881 ES:SE:LP:AF:ID 0.0366:0.0234:0.920819:0.7881:rs10399749
1 55326 rs3107975 T C . PASS AF=0.9306 ES:SE:LP:AF:ID -0.0323:0.054:0.259637:0.9306:rs3107975
1 55367 rs190850374 G A . PASS AF=0.0047 ES:SE:LP:AF:ID -0.156:0.174:0.431798:0.0047:rs190850374
1 55394 rs2949420 T A . PASS AF=0.7108 ES:SE:LP:AF:ID 0.0701:0.0334:1.4437:0.7108:rs2949420
1 55416 rs193242050 G A . PASS AF=0.9571 ES:SE:LP:AF:ID -0.0248:0.116:0.0809219:0.9571:rs193242050
1 55850 rs191890754 C G . PASS AF=0.7395 ES:SE:LP:AF:ID -0.131:0.0469:2.284:0.7395:rs191890754
1 55852 rs184233019 G C . PASS AF=0.7216 ES:SE:LP:AF:ID 0.0828:0.0575:0.823909:0.7216:rs184233019
1 56644 rs143342222 A C . PASS AF=0.9869 ES:SE:LP:AF:ID -0.115:0.267:0.173925:0.9869:rs143342222
1 57321 rs1244179854 G A . PASS AF=0.635 ES:SE:LP:AF:ID 0.0107:0.0103:0.522879:0.635:rs1244179854
1 57952 rs2691334 A C . PASS AF=0.1317 ES:SE:LP:AF:ID -0.0207:0.029:0.318759:0.1317:rs2691334
1 58814 rs114420996 G A . PASS AF=0.8441 ES:SE:LP:AF:ID -0.0178:0.0293:0.267606:0.8441:rs114420996
1 59040 rs62637815 T C . PASS AF=0.8896 ES:SE:LP:AF:ID -0.01:0.0462:0.0809219:0.8896:rs62637815
1 61424 rs1189968251 C T . PASS AF=0.0007 ES:SE:LP:AF:ID 0.217:0.132:1:0.0007:rs1189968251
1 61442 rs2531261 A G . PASS AF=0.0916 ES:SE:LP:AF:ID -0.00702:0.0394:0.0655015:0.0916:rs2531261
1 61462 rs56992750 T A . PASS AF=0.917 ES:SE:LP:AF:ID 0.0357:0.0487:0.337242:0.917:rs56992750
1 61743 rs184286948 G C . PASS AF=0.0036 ES:SE:LP:AF:ID -0.0986:0.21:0.19382:0.0036:rs184286948