{
"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-GCST005898,TotalVariants=417240,VariantsNotRead=0,HarmonisedVariants=417240,VariantsNotHarmonised=0,SwitchedAlleles=0,TotalControls=15702.0,TotalCases=5277.0,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": "2019-10-26T09:28:11.534002",
"gwas_harmonisation_command": "--json /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/processed/EBI-a-GCST005898/EBI-a-GCST005898_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-GCST005898/EBI-a-GCST005898.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/processed/EBI-a-GCST005898/EBI-a-GCST005898_data.vcf.gz; Date=Sat Oct 26 09:42:42 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-GCST005898/ebi-a-GCST005898.vcf.gz; Date=Sun May 10 07:17:45 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-GCST005898/EBI-a-GCST005898.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-GCST005898/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 10:06:33 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ebi_gwas_import/processed/EBI-a-GCST005898/EBI-a-GCST005898.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 10:06:35 2019
Total time elapsed: 2.64s
{
"af_correlation": 0.9232,
"inflation_factor": 0.9609,
"mean_EFFECT": 0.0214,
"n": "-Inf",
"n_snps": 417240,
"n_clumped_hits": 0,
"n_p_sig": 0,
"n_mono": 0,
"n_ns": 31121,
"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": 45133,
"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 | FALSE |
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 | FALSE |
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 | 5 | 12 | 0 | 411883 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 42 | 0 | 2749 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 37 | 0 | 1764 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
logical | N | 411887 | 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 | 2.300000e+01 | 0.000000e+00 | 2.300000e+01 | 2.300000e+01 | 2.300000e+01 | 2.300000e+01 | 2.300000e+01 | ▁▁▇▁▁ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 7.750939e+07 | 4.628064e+07 | 2.699555e+06 | 3.289829e+07 | 8.290992e+07 | 1.190964e+08 | 1.549302e+08 | ▇▅▆▆▆ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 2.137210e-02 | 7.158957e-01 | -2.229160e+01 | -4.360000e-02 | 7.000000e-03 | 7.730000e-02 | 2.164130e+01 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 1.074655e+00 | 8.597421e+00 | 2.530000e-02 | 3.350000e-02 | 8.700000e-02 | 3.355000e-01 | 9.329390e+02 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 5.062534e-01 | 2.924913e-01 | 5.200000e-06 | 2.530003e-01 | 5.085001e-01 | 7.620001e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 5.062517e-01 | 2.924922e-01 | 5.300000e-06 | 2.529645e-01 | 5.084684e-01 | 7.621322e-01 | 9.999888e-01 | ▇▇▇▇▇ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 1.675331e-01 | 2.462307e-01 | 1.000000e-03 | 5.200000e-03 | 3.370000e-02 | 2.415000e-01 | 9.990000e-01 | ▇▁▁▁▁ |
numeric | AF_reference | 45133 | 0.8904238 | NA | NA | NA | NA | NA | NA | NA | 1.874645e-01 | 2.403106e-01 | 0.000000e+00 | 5.033100e-03 | 7.496690e-02 | 2.974830e-01 | 1.000000e+00 | ▇▂▁▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 2699555 | rs311165 | C | A | 0.0461 | 0.0374 | 0.2176001 | 0.2177175 | 0.4517 | 0.5533770 | NA |
23 | 2699645 | rs28579419 | G | T | 0.0703 | 0.0437 | 0.1073999 | 0.1076829 | 0.1406 | 0.0405298 | NA |
23 | 2699676 | rs60075487 | G | A | 0.0760 | 0.0530 | 0.1515999 | 0.1515830 | 0.1624 | 0.2717880 | NA |
23 | 2699898 | rs60233760 | C | CT | 0.0876 | 0.0526 | 0.0958297 | 0.0958331 | 0.1590 | 0.2678150 | NA |
23 | 2699968 | rs2306737 | A | G | -0.0754 | 0.0316 | 0.0168799 | 0.0170292 | 0.5477 | 0.5274170 | NA |
23 | 2700027 | rs2306736 | T | C | -0.0724 | 0.0320 | 0.0236903 | 0.0236665 | 0.5526 | 0.4903310 | NA |
23 | 2700089 | rs41297271 | A | G | 0.4281 | 0.1538 | 0.0053699 | 0.0053778 | 0.0092 | 0.0039735 | NA |
23 | 2700157 | rs5939319 | G | A | 0.0699 | 0.0428 | 0.1022000 | 0.1024317 | 0.1418 | 0.0415894 | NA |
23 | 2700202 | rs5939320 | A | G | 0.0701 | 0.0339 | 0.0388302 | 0.0386544 | 0.3114 | 0.3533770 | NA |
23 | 2700302 | rs72619369 | T | A | 0.0443 | 0.0423 | 0.2946002 | 0.2949698 | 0.1723 | 0.3369540 | NA |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
23 | 154921127 | rs58486544 | T | C | -0.7992 | 0.4667 | 0.0868500 | 0.0868139 | 0.0449 | 0.1451660 | NA |
23 | 154923225 | rs148193288 | T | G | 0.2462 | 0.2265 | 0.2771003 | 0.2770475 | 0.0055 | 0.0021192 | NA |
23 | 154923311 | rs141127553 | C | T | -0.9034 | 0.4951 | 0.0680393 | 0.0680490 | 0.0425 | 0.0309934 | NA |
23 | 154925045 | rs509981 | C | T | -0.0575 | 0.0298 | 0.0533003 | 0.0536651 | 0.2438 | 0.3634440 | NA |
23 | 154925895 | rs538470 | C | T | -0.0628 | 0.0306 | 0.0401597 | 0.0401417 | 0.2359 | 0.3634440 | NA |
23 | 154927197 | rs200614200 | TAC | T | -0.0584 | 0.0302 | 0.0528299 | 0.0531408 | 0.2403 | NA | NA |
23 | 154927199 | rs645904 | C | T | -0.0585 | 0.0298 | 0.0499804 | 0.0496360 | 0.2429 | 0.3674170 | NA |
23 | 154927581 | rs644138 | G | A | -0.0694 | 0.0294 | 0.0180198 | 0.0182481 | 0.2977 | 0.4635760 | NA |
23 | 154929412 | rs557132 | C | T | -0.0619 | 0.0297 | 0.0374697 | 0.0371442 | 0.2425 | 0.3568210 | NA |
23 | 154930230 | rs781880 | A | G | -0.0600 | 0.0302 | 0.0466498 | 0.0469496 | 0.2410 | 0.3618540 | NA |
X 2699555 rs311165 C A . PASS AF=0.4517 ES:SE:LP:AF:ID 0.0461:0.0374:0.662341:0.4517:rs311165
X 2699645 rs28579419 G T . PASS AF=0.1406 ES:SE:LP:AF:ID 0.0703:0.0437:0.968996:0.1406:rs28579419
X 2699676 rs60075487 G A . PASS AF=0.1624 ES:SE:LP:AF:ID 0.076:0.053:0.819301:0.1624:rs60075487
X 2699898 rs60233760 C CT . PASS AF=0.159 ES:SE:LP:AF:ID 0.0876:0.0526:1.0185:0.159:rs60233760
X 2699968 rs2306737 A G . PASS AF=0.5477 ES:SE:LP:AF:ID -0.0754:0.0316:1.77263:0.5477:rs2306737
X 2700027 rs2306736 T C . PASS AF=0.5526 ES:SE:LP:AF:ID -0.0724:0.032:1.62543:0.5526:rs2306736
X 2700089 rs41297271 A G . PASS AF=0.0092 ES:SE:LP:AF:ID 0.4281:0.1538:2.27003:0.0092:rs41297271
X 2700157 rs5939319 G A . PASS AF=0.1418 ES:SE:LP:AF:ID 0.0699:0.0428:0.990549:0.1418:rs5939319
X 2700202 rs5939320 A G . PASS AF=0.3114 ES:SE:LP:AF:ID 0.0701:0.0339:1.41083:0.3114:rs5939320
X 2700302 rs72619369 T A . PASS AF=0.1723 ES:SE:LP:AF:ID 0.0443:0.0423:0.530767:0.1723:rs72619369
X 2700613 rs4892819 A G . PASS AF=0.5369 ES:SE:LP:AF:ID -0.0375:0.0372:0.503347:0.5369:rs4892819
X 2700633 rs148775111 G T . PASS AF=0.0089 ES:SE:LP:AF:ID -0.0101:0.1876:0.0189519:0.0089:rs148775111
X 2701185 rs1970797 C T . PASS AF=0.8748 ES:SE:LP:AF:ID -0.0173:0.0475:0.144784:0.8748:rs1970797
X 2702339 rs111595179 T C . PASS AF=0.079 ES:SE:LP:AF:ID 0.1069:0.145:0.336205:0.079:rs111595179
X 2702568 rs5982854 G A . PASS AF=0.047 ES:SE:LP:AF:ID -0.0941:0.0787:0.633951:0.047:rs5982854
X 2702698 rs73433431 C T . PASS AF=0.0776 ES:SE:LP:AF:ID 0.0891:0.1456:0.267044:0.0776:rs73433431
X 2702946 rs5982856 G T . PASS AF=0.0472 ES:SE:LP:AF:ID -0.0875:0.0783:0.577903:0.0472:rs5982856
X 2703354 rs5982584 G C . PASS AF=0.0471 ES:SE:LP:AF:ID -0.0853:0.0783:0.559563:0.0471:rs5982584
X 2703391 rs1486175 T C . PASS AF=0.7105 ES:SE:LP:AF:ID 0.0067:0.0294:0.0866631:0.7105:rs1486175
X 2703476 rs143272590 T C . PASS AF=0.0079 ES:SE:LP:AF:ID 0.5892:0.4709:0.676129:0.0079:rs143272590
X 2703500 rs11413215 A AT . PASS AF=0.7011 ES:SE:LP:AF:ID 0.0014:0.0297:0.0170055:0.7011:rs11413215
X 2703544 rs6420589 A G . PASS AF=0.8216 ES:SE:LP:AF:ID -0.008:0.0383:0.0783135:0.8216:rs6420589
X 2703633 rs1419931 A G . PASS AF=0.71 ES:SE:LP:AF:ID 0.009:0.0291:0.121076:0.71:rs1419931
X 2704335 rs6641645 G C . PASS AF=0.7072 ES:SE:LP:AF:ID 0.0075:0.0293:0.0983782:0.7072:rs6641645
X 2704469 rs5939322 T C . PASS AF=0.7134 ES:SE:LP:AF:ID 0.0063:0.0296:0.0806604:0.7134:rs5939322
X 2704556 rs6641647 A G . PASS AF=0.7117 ES:SE:LP:AF:ID 0.007:0.0296:0.090444:0.7117:rs6641647
X 2704609 rs5939323 T C . PASS AF=0.7136 ES:SE:LP:AF:ID 0.0063:0.0296:0.0805558:0.7136:rs5939323
X 2704808 rs6642018 T C . PASS AF=0.7135 ES:SE:LP:AF:ID 0.0073:0.0296:0.0932879:0.7135:rs6642018
X 2704989 rs6642019 T C . PASS AF=0.7111 ES:SE:LP:AF:ID 0.0047:0.0296:0.0582402:0.7111:rs6642019
X 2705011 rs113922957 C T . PASS AF=0.0769 ES:SE:LP:AF:ID 0.1064:0.1473:0.327717:0.0769:rs113922957
X 2705265 rs112589751 C T . PASS AF=0.0768 ES:SE:LP:AF:ID 0.1064:0.1474:0.327533:0.0768:rs112589751
X 2705462 rs5982858 G A . PASS AF=0.0475 ES:SE:LP:AF:ID -0.0817:0.0774:0.535958:0.0475:rs5982858
X 2705464 rs59808240 T A . PASS AF=0.6636 ES:SE:LP:AF:ID 0.014:0.029:0.201695:0.6636:rs59808240
X 2706143 rs34253565 AAG A . PASS AF=0.047 ES:SE:LP:AF:ID -0.0663:0.077:0.409827:0.047:rs113045181
X 2706153 rs200182301 GAC G . PASS AF=0.0491 ES:SE:LP:AF:ID -0.0665:0.0804:0.389021:0.0491:rs200182301
X 2706340 rs5982859 G A . PASS AF=0.0469 ES:SE:LP:AF:ID -0.0672:0.0769:0.417482:0.0469:rs5982859
X 2706487 rs5982860 G T . PASS AF=0.047 ES:SE:LP:AF:ID -0.0655:0.0762:0.408824:0.047:rs5982860
X 2706896 rs58649691 T TA . PASS AF=0.7777 ES:SE:LP:AF:ID -0.0093:0.0638:0.0537934:0.7777:rs58649691
X 2707060 rs5939117 A G . PASS AF=0.7203 ES:SE:LP:AF:ID -0.0219:0.0607:0.143815:0.7203:rs5939117
X 2707142 rs5939324 T C . PASS AF=0.7575 ES:SE:LP:AF:ID 0.0767:0.0916:0.395018:0.7575:rs5939324
X 2707978 rs311166 T C . PASS AF=0.8733 ES:SE:LP:AF:ID -0.1413:0.1062:0.736838:0.8733:rs311166
X 2708651 rs56231504 G A . PASS AF=0.147 ES:SE:LP:AF:ID -0.1847:0.1048:1.10763:0.147:rs56231504
X 2709004 rs200860951 GTAAA G . PASS AF=0.5309 ES:SE:LP:AF:ID -0.0408:0.0799:0.214955:0.5309:rs200860951
X 2709047 rs180838415 C T . PASS AF=0.0022 ES:SE:LP:AF:ID -0.8339:0.9127:0.442613:0.0022:rs180838415
X 2709093 rs200724145 TTTC T . PASS AF=0.0544 ES:SE:LP:AF:ID -0.1578:0.1754:0.433798:0.0544:rs200724145
X 2710506 rs311167 G C . PASS AF=0.6678 ES:SE:LP:AF:ID -0.0055:0.051:0.0390538:0.6678:rs311167
X 2710840 rs311168 C T . PASS AF=0.6633 ES:SE:LP:AF:ID -0.0135:0.0506:0.102703:0.6633:rs311168
X 2710995 rs311169 C T . PASS AF=0.6676 ES:SE:LP:AF:ID -0.0091:0.0508:0.0669178:0.6676:rs311169
X 2711429 rs311170 G A . PASS AF=0.6663 ES:SE:LP:AF:ID -0.007:0.0507:0.0507076:0.6663:rs311170
X 2711722 rs4892892 C T . PASS AF=0.6637 ES:SE:LP:AF:ID 0.0024:0.0508:0.0163286:0.6637:rs4892892