{
"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-1121,TotalVariants=15635909,VariantsNotRead=152,HarmonisedVariants=15635757,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-1121/ieu-a-1121_data.json --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/QC/genomes/b37/human_g1k_v37.fasta; 1.1.1",
"file_date": "2020-02-04T10:16:02.306011",
"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-1121/ieu-a-1121.vcf.gz -O z /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1121/ieu-a-1121_data.vcf.gz; Date=Tue Feb 4 11:29:13 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-1121/ieu-a-1121.vcf.gz; Date=Sun May 10 23:23:14 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-1121/ieu-a-1121.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-1121/ldsc.txt \
--w-ld-chr /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/reference/eur_w_ld_chr/
Beginning analysis at Tue Feb 4 16:13:26 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1121/ieu-a-1121.vcf.gz ...
Read summary statistics for 15635757 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, 1218951 SNPs remain.
After merging with regression SNP LD, 1218951 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0602 (0.0133)
Lambda GC: 1.0604
Mean Chi^2: 1.0871
Intercept: 1.0243 (0.0069)
Ratio: 0.2784 (0.0786)
Analysis finished at Tue Feb 4 16:16:03 2020
Total time elapsed: 2.0m:36.99s
{
"af_correlation": 0.9604,
"inflation_factor": 1.0552,
"mean_EFFECT": -0.2376,
"n": 53978,
"n_snps": 15635757,
"n_clumped_hits": 16,
"n_p_sig": 4156,
"n_mono": 0,
"n_ns": 786352,
"n_mac": 269927,
"is_snpid_unique": false,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 5006,
"n_miss_AF_reference": 162878,
"n_est": 51651.4528,
"ratio_se_n": 0.9782,
"mean_diff": 0.2467,
"ratio_diff": 2.7103,
"sd_y_est1": 2.8548,
"sd_y_est2": 2.7926,
"r2_sum1": 0.1401,
"r2_sum2": 0.0172,
"r2_sum3": 0.018,
"r2_sum4": 0.021,
"ldsc_nsnp_merge_refpanel_ld": 1218951,
"ldsc_nsnp_merge_regression_ld": 1218951,
"ldsc_observed_scale_h2_beta": 0.0602,
"ldsc_observed_scale_h2_se": 0.0133,
"ldsc_intercept_beta": 1.0243,
"ldsc_intercept_se": 0.0069,
"ldsc_lambda_gc": 1.0604,
"ldsc_mean_chisq": 1.0871,
"ldsc_ratio": 0.279
}
name | value |
---|---|
name | value |
af_correlation | FALSE |
inflation_factor | FALSE |
n | FALSE |
is_snpid_non_unique | TRUE |
mean_EFFECT_nonfinite | FALSE |
mean_EFFECT_05 | FALSE |
mean_EFFECT_01 | TRUE |
mean_chisq | FALSE |
n_p_sig | TRUE |
miss_EFFECT | FALSE |
miss_SE | FALSE |
miss_PVAL | FALSE |
ldsc_ratio | FALSE |
ldsc_intercept_beta | FALSE |
n_clumped_hits | FALSE |
r2_sum1 | FALSE |
r2_sum2 | FALSE |
r2_sum3 | FALSE |
r2_sum4 | FALSE |
General metrics
af_correlation
: Correlation coefficient between AF
and AF_reference
.inflation_factor
(lambda
): Genomic inflation factor.mean_EFFECT
: Mean of EFFECT
size.n
: Maximum value of reported sample size across all SNPs, n.n_clumped_hits
: Number of clumped hits.n_snps
: Number of SNPsn_p_sig
: Number of SNPs with pvalue below 5e-8
.n_mono
: Number of monomorphic (MAF == 1
or MAF == 0
) SNPs.n_ns
: Number of SNPs with nonsense values:
A, C, G or T
.< 0
or > 1
.<= 0
or = Infinity
).< 0
or > 1
.n_mac
: Number of cases where MAC
(2×N×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, ˆn.ratio_se_n
: ratio_se_n=√ˆn√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
: mean_diff=∑j^βstdj−βjn_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
: ratio_diff=|mean_diffmean_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
: r2=∑j2×β2j×MAFj×(1−MAFj)var1, var1=1.2
: r2=∑j2×β2j×MAFj×(1−MAFj)var2, var2=^sd1y2,3
: r2=∑j2×β2j×MAFj×(1−MAFj)var3, var3=^sd2y2,4
: r2=∑jFjFj+n−2, F=β2jse2j.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 χ2 statistics.ldsc_ratio
: ldsc_intercept_beta−1ldsc_mean_chisq−1, the proportion of the inflation in the mean χ2 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 h2 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | 47 | 0 | 15635755 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 101 | 0 | 37882 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 105 | 0 | 18193 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.958477e+00 | 6.312051e+00 | 1.0000e+00 | 4.000000e+00 | 7.000000e+00 | 1.400000e+01 | 2.400000e+01 | ▇▆▂▃▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.932522e+07 | 5.676282e+07 | 5.6000e+01 | 3.254872e+07 | 6.974966e+07 | 1.158559e+08 | 2.492402e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | -2.376291e-01 | 2.406417e+00 | -2.0410e+01 | -4.081000e-02 | -2.197000e-04 | 3.887000e-02 | 2.037000e+01 | ▁▁▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.231001e-01 | 6.108504e+00 | 1.5820e-03 | 2.208000e-02 | 6.466000e-02 | 2.513000e-01 | 1.000000e+03 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.915288e-01 | 2.905065e-01 | 0.0000e+00 | 2.375998e-01 | 4.884004e-01 | 7.434008e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.915523e-01 | 2.904962e-01 | 0.0000e+00 | 2.376748e-01 | 4.883844e-01 | 7.433909e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 5006 | 0.9996798 | NA | NA | NA | NA | NA | 1.534350e-01 | 2.447970e-01 | 0.0000e+00 | 1.995000e-03 | 1.989000e-02 | 2.061000e-01 | 9.999980e-01 | ▇▁▁▁▁ |
numeric | AF_reference | 162878 | 0.9895830 | NA | NA | NA | NA | NA | 1.531725e-01 | 2.322675e-01 | 0.0000e+00 | 2.595800e-03 | 3.055110e-02 | 2.122600e-01 | 1.000000e+00 | ▇▁▁▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 5.397800e+04 | 0.000000e+00 | 5.3978e+04 | 5.397800e+04 | 5.397800e+04 | 5.397800e+04 | 5.397800e+04 | ▁▁▇▁▁ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
1 | 10616 | rs376342519 | CCGCCGTTGCAAAGGCGCGCCG | C | 0.03490 | 0.11470 | 0.7609007 | 0.7609207 | 0.991000 | 0.9930110 | 53978 |
1 | 14933 | rs199856693 | G | A | 0.03889 | 0.07369 | 0.5976006 | 0.5976719 | 0.047970 | 0.0283546 | 53978 |
1 | 15774 | rs374029747 | G | A | -0.12340 | 0.18690 | 0.5088995 | 0.5090959 | 0.006579 | 0.0119808 | 53978 |
1 | 16949 | rs199745162 | A | C | -0.11620 | 0.10220 | 0.2555001 | 0.2555440 | 0.016750 | 0.0139776 | 53978 |
1 | 51479 | rs116400033 | T | A | -0.01086 | 0.03159 | 0.7309994 | 0.7310120 | 0.232100 | 0.1281950 | 53978 |
1 | 52185 | rs201374420 | TTAA | T | 0.53560 | 1.16000 | 0.6442998 | 0.6442792 | 0.005882 | 0.0053914 | 53978 |
1 | 54353 | rs140052487 | C | A | -0.74990 | 0.50550 | 0.1380000 | 0.1379465 | 0.001339 | 0.0089856 | 53978 |
1 | 54490 | rs141149254 | G | A | -0.01122 | 0.03554 | 0.7522999 | 0.7522298 | 0.166100 | 0.0960463 | 53978 |
1 | 55164 | rs3091274 | C | A | 0.06106 | 0.10690 | 0.5677995 | 0.5678722 | 0.980700 | 0.9233230 | 53978 |
1 | 55326 | rs3107975 | T | C | 0.02660 | 0.20440 | 0.8965000 | 0.8964580 | 0.028260 | 0.0459265 | 53978 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
23 | 154926843 | rs192521690 | T | C | -0.126500 | 0.34920 | 0.7171995 | 0.7171603 | 0.002532 | 0.0007947 | 53978 |
23 | 154927185 | rs185685661 | T | C | -0.003081 | 0.03367 | 0.9271000 | 0.9270907 | 0.139300 | 0.1796030 | 53978 |
23 | 154927199 | rs645904 | C | T | 0.003126 | 0.01820 | 0.8635999 | 0.8636276 | 0.248000 | 0.3674170 | 53978 |
23 | 154927581 | rs644138 | G | A | -0.006215 | 0.01757 | 0.7235008 | 0.7235428 | 0.299900 | 0.4635760 | 53978 |
23 | 154928151 | rs144607509 | C | T | 0.625300 | 0.80860 | 0.4393999 | 0.4393378 | 0.018780 | 0.0084768 | 53978 |
23 | 154928909 | rs148015245 | C | T | -5.230000 | 2.23300 | 0.0191801 | 0.0191735 | 0.004206 | 0.0007947 | 53978 |
23 | 154929412 | rs557132 | C | T | 0.002876 | 0.01818 | 0.8743000 | 0.8743025 | 0.250400 | 0.3568210 | 53978 |
23 | 154929952 | rs4012982 | CAA | C | 0.007709 | 0.02639 | 0.7702009 | 0.7701962 | 0.250900 | 0.3165560 | 53978 |
23 | 154930230 | rs781880 | A | G | 0.002489 | 0.01821 | 0.8913000 | 0.8912813 | 0.249000 | 0.3618540 | 53978 |
24 | 13537468 | rs7203107 | A | G | 0.234000 | 0.11460 | 0.0411604 | 0.0411630 | 0.985590 | NA | 53978 |
1 10616 rs376342519 CCGCCGTTGCAAAGGCGCGCCG C . PASS AF=0.991 ES:SE:LP:AF:SS:ID 0.0349:0.1147:0.118672:0.991:53978:rs376342519
1 14933 rs199856693 G A . PASS AF=0.04797 ES:SE:LP:AF:SS:ID 0.03889:0.07369:0.223589:0.04797:53978:rs199856693
1 15774 rs374029747 G A . PASS AF=0.006579 ES:SE:LP:AF:SS:ID -0.1234:0.1869:0.293368:0.006579:53978:rs374029747
1 16949 rs199745162 A C . PASS AF=0.01675 ES:SE:LP:AF:SS:ID -0.1162:0.1022:0.592609:0.01675:53978:rs199745162
1 51479 rs116400033 T A . PASS AF=0.2321 ES:SE:LP:AF:SS:ID -0.01086:0.03159:0.136083:0.2321:53978:rs116400033
1 52185 rs201374420 TTAA T . PASS AF=0.005882 ES:SE:LP:AF:SS:ID 0.5356:1.16:0.190912:0.005882:53978:rs201374420
1 54353 rs140052487 C A . PASS AF=0.001339 ES:SE:LP:AF:SS:ID -0.7499:0.5055:0.860121:0.001339:53978:rs140052487
1 54490 rs141149254 G A . PASS AF=0.1661 ES:SE:LP:AF:SS:ID -0.01122:0.03554:0.123609:0.1661:53978:rs141149254
1 55164 rs3091274 C A . PASS AF=0.9807 ES:SE:LP:AF:SS:ID 0.06106:0.1069:0.245805:0.9807:53978:rs3091274
1 55326 rs3107975 T C . PASS AF=0.02826 ES:SE:LP:AF:SS:ID 0.0266:0.2044:0.0474497:0.02826:53978:rs3107975
1 55545 rs28396308 C T . PASS AF=0.2248 ES:SE:LP:AF:SS:ID 0.03886:0.03473:0.579549:0.2248:53978:rs28396308
1 57183 rs368339209 A G . PASS AF=0.0007041 ES:SE:LP:AF:SS:ID -0.2126:0.6065:0.139123:0.0007041:53978:rs368339209
1 57292 rs201418760 C T . PASS AF=0.02393 ES:SE:LP:AF:SS:ID 0.02247:0.2013:0.040434:0.02393:53978:rs201418760
1 58814 rs114420996 G A . PASS AF=0.1003 ES:SE:LP:AF:SS:ID 0.04123:0.04913:0.396531:0.1003:53978:rs114420996
1 61543 rs201849102 T C . PASS AF=0.0003079 ES:SE:LP:AF:SS:ID -1.309:1.511:0.412963:0.0003079:53978:rs201849102
1 61743 rs184286948 G C . PASS AF=0.009155 ES:SE:LP:AF:SS:ID 0.09065:0.1453:0.273599:0.009155:53978:rs184286948
1 61920 rs62637820 G A . PASS AF=0.02945 ES:SE:LP:AF:SS:ID 0.09099:0.08392:0.555643:0.02945:53978:rs62637820
1 63093 rs200092917 G A . PASS AF=0.0207 ES:SE:LP:AF:SS:ID 0.2107:0.1072:1.30759:0.0207:53978:rs200092917
1 64649 rs181431124 A C . PASS AF=0.02715 ES:SE:LP:AF:SS:ID 0.1248:0.0915:0.762959:0.02715:53978:rs181431124
1 66219 rs181028663 A T . PASS AF=0.01624 ES:SE:LP:AF:SS:ID 0.063:0.1158:0.231806:0.01624:53978:rs181028663
1 68082 rs367789441 T C . PASS AF=0.06526 ES:SE:LP:AF:SS:ID -0.03789:0.05447:0.312739:0.06526:53978:rs367789441
1 68596 rs372212855 T G . PASS AF=0.003797 ES:SE:LP:AF:SS:ID -0.3325:0.2195:0.88706:0.003797:53978:rs372212855
1 69428 rs140739101 T G . PASS AF=0.04215 ES:SE:LP:AF:SS:ID -0.09426:0.06959:0.755475:0.04215:53978:rs140739101
1 69534 rs190717287 T C . PASS AF=0.0003164 ES:SE:LP:AF:SS:ID -1.265:0.9312:0.758703:0.0003164:53978:rs190717287
1 69761 rs200505207 A T . PASS AF=0.06821 ES:SE:LP:AF:SS:ID -0.03409:0.05295:0.284331:0.06821:53978:rs200505207
1 69897 rs200676709 T C . PASS AF=0.7661 ES:SE:LP:AF:SS:ID -0.02085:0.03419:0.266001:0.7661:53978:rs200676709
1 72297 rs200651397 G GTAT . PASS AF=0.006341 ES:SE:LP:AF:SS:ID -0.06657:0.1908:0.138406:0.006341:53978:rs200651397
1 74790 rs13328700 C G . PASS AF=0.03421 ES:SE:LP:AF:SS:ID 0.06374:0.06936:0.445996:0.03421:53978:rs13328700
1 74792 rs13328684 G A . PASS AF=0.03421 ES:SE:LP:AF:SS:ID 0.06374:0.06936:0.445996:0.03421:53978:rs13328684
1 76854 rs367666799 A G . PASS AF=0.06856 ES:SE:LP:AF:SS:ID -0.03686:0.05907:0.273599:0.06856:53978:rs367666799
1 78942 rs372315362 C G . PASS AF=0.01116 ES:SE:LP:AF:SS:ID -2.338:1.251:1.21021:0.01116:53978:rs372315362
1 80454 rs144226842 G C . PASS AF=0.0004404 ES:SE:LP:AF:SS:ID -20.13:21.55:0.455436:0.0004404:53978:rs144226842
1 81590 rs202072409 AC A . PASS AF=0.004955 ES:SE:LP:AF:SS:ID 1.196:0.9898:0.644357:0.004955:53978:rs202072409
1 82163 rs139113303 G A . PASS AF=0.06791 ES:SE:LP:AF:SS:ID -0.03982:0.05948:0.298259:0.06791:53978:rs139113303
1 82609 rs149189449 C G . PASS AF=0.06818 ES:SE:LP:AF:SS:ID -0.03689:0.05931:0.27254:0.06818:53978:rs149189449
1 83514 rs201754587 C T . PASS AF=0.3501 ES:SE:LP:AF:SS:ID 0.001985:0.03137:0.022505:0.3501:53978:rs201754587
1 84139 rs183605470 A T . PASS AF=0.02132 ES:SE:LP:AF:SS:ID -0.1017:0.1146:0.426548:0.02132:53978:rs183605470
1 86028 rs114608975 T C . PASS AF=0.04742 ES:SE:LP:AF:SS:ID -0.03854:0.06659:0.249723:0.04742:53978:rs114608975
1 86065 rs116504101 G C . PASS AF=0.06995 ES:SE:LP:AF:SS:ID -0.03729:0.0588:0.279014:0.06995:53978:rs116504101
1 86331 rs115209712 A G . PASS AF=0.1018 ES:SE:LP:AF:SS:ID 0.09207:0.04824:1.24941:0.1018:53978:rs115209712
1 87021 rs188486692 T C . PASS AF=0.00763 ES:SE:LP:AF:SS:ID 0.1007:0.1547:0.288108:0.00763:53978:rs188486692
1 87360 rs180907504 C T . PASS AF=0.01853 ES:SE:LP:AF:SS:ID 0.04605:0.09713:0.196953:0.01853:53978:rs180907504
1 87409 rs139490478 C T . PASS AF=0.07088 ES:SE:LP:AF:SS:ID -0.04254:0.05829:0.33208:0.07088:53978:rs139490478
1 88169 rs940550 C T . PASS AF=0.2022 ES:SE:LP:AF:SS:ID 0.05078:0.03333:0.894149:0.2022:53978:rs940550
1 88172 rs940551 G A . PASS AF=0.06423 ES:SE:LP:AF:SS:ID -0.06005:0.05532:0.556424:0.06423:53978:rs940551
1 88177 rs143215837 G C . PASS AF=0.06377 ES:SE:LP:AF:SS:ID -0.05466:0.0556:0.487316:0.06377:53978:rs143215837
1 88188 rs148331237 C A . PASS AF=0.007142 ES:SE:LP:AF:SS:ID -0.1546:0.157:0.488651:0.007142:53978:rs148331237
1 88236 rs186918018 C T . PASS AF=0.01279 ES:SE:LP:AF:SS:ID 0.01523:0.246:0.0220022:0.01279:53978:rs186918018
1 88316 rs113759966 G A . PASS AF=0.06376 ES:SE:LP:AF:SS:ID -0.05522:0.0558:0.49174:0.06376:53978:rs113759966
1 88338 rs55700207 G A . PASS AF=0.08209 ES:SE:LP:AF:SS:ID 0.05008:0.05396:0.451733:0.08209:53978:rs55700207