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}
*********************************************************************
* 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-1100/ieu-a-1100.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-1100/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 19:46:49 2020
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/dev/ieu-a-import/processed/ieu-a-1100/ieu-a-1100.vcf.gz ...
Read summary statistics for 2189141 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, 1067474 SNPs remain.
After merging with regression SNP LD, 1067474 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: -0.1061 (0.064)
Lambda GC: 1.0088
Mean Chi^2: 1.0083
Intercept: 1.0208 (0.0058)
Ratio: 2.5133 (0.7014)
Analysis finished at Tue Feb 4 19:47:17 2020
Total time elapsed: 27.59s
{
"af_correlation": 0.9011,
"inflation_factor": 1,
"mean_EFFECT": -0.0003,
"n": 5826,
"n_snps": 2189141,
"n_clumped_hits": 0,
"n_p_sig": 0,
"n_mono": 0,
"n_ns": 0,
"n_mac": 0,
"is_snpid_unique": true,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 686,
"n_miss_AF_reference": 18366,
"n_est": 5488.632,
"ratio_se_n": 0.9706,
"mean_diff": 0.0001,
"ratio_diff": 4.3879,
"sd_y_est1": 1.5719,
"sd_y_est2": 1.5257,
"r2_sum1": 0,
"r2_sum2": 0,
"r2_sum3": 0,
"r2_sum4": 0,
"ldsc_nsnp_merge_refpanel_ld": 1067474,
"ldsc_nsnp_merge_regression_ld": 1067474,
"ldsc_observed_scale_h2_beta": "NA",
"ldsc_observed_scale_h2_se": "NA",
"ldsc_intercept_beta": 1.0208,
"ldsc_intercept_se": 0.0058,
"ldsc_lambda_gc": 1.0088,
"ldsc_mean_chisq": 1.0083,
"ldsc_ratio": 2.506
}
name | value |
---|---|
af_correlation | FALSE |
inflation_factor | FALSE |
n | TRUE |
is_snpid_non_unique | FALSE |
mean_EFFECT_nonfinite | FALSE |
mean_EFFECT_05 | FALSE |
mean_EFFECT_01 | FALSE |
mean_chisq | FALSE |
n_p_sig | FALSE |
miss_EFFECT | FALSE |
miss_SE | FALSE |
miss_PVAL | FALSE |
ldsc_ratio | TRUE |
ldsc_intercept_beta | FALSE |
n_clumped_hits | FALSE |
r2_sum1 | FALSE |
r2_sum2 | FALSE |
r2_sum3 | FALSE |
r2_sum4 | FALSE |
General metrics
af_correlation
: Correlation coefficient between AF
and AF_reference
.inflation_factor
(lambda
): Genomic inflation factor.mean_EFFECT
: Mean of EFFECT
size.n
: Maximum value of reported sample size across all SNPs, \(n\).n_clumped_hits
: Number of clumped hits.n_snps
: Number of SNPsn_p_sig
: Number of SNPs with pvalue below 5e-8
.n_mono
: Number of monomorphic (MAF == 1
or MAF == 0
) SNPs.n_ns
: Number of SNPs with nonsense values:
A, C, G or T
.< 0
or > 1
.<= 0
or = Infinity
).< 0
or > 1
.n_mac
: Number of cases where MAC
(\(2 \times N \times MAF\)) is less than 6
.is_snpid_unique
: true
if the combination of ID
REF
ALT
is unique and therefore no duplication in snpid.n_miss_<*>
: Number of NA
observations for <*>
column.se_n metrics
n_est
: Estimated sample size value, \(\widehat{n}\).ratio_se_n
: \(\texttt{ratio_se_n} = \frac{\sqrt{\widehat{n}}}{\sqrt{n}}\). We expect ratio_se_n
to be 1. When it is not 1, it implies that the trait did not have a variance of 1, the reported sample size is wrong, or that the SNP-level effective sample sizes differ markedly from the reported sample size.mean_diff
: \(\texttt{mean_diff} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta_j}{\texttt{n_snps}}\), mean difference between the standardised beta, predicted from P-values, and the observed beta. The difference should be very close to zero if trait has a variance of 1.
ratio_diff
: \(\texttt{ratio_diff} = |\frac{\texttt{mean_diff}}{\texttt{mean_diff2}}|\), absolute ratio between the mean of diff
and the mean of diff2
(expected difference between the standardised beta predicted from P-values, and the standardised beta derived from the observed beta divided by the predicted SD; NOT reported). The ratio should be close to 1. If different from 1, then implies that the betas are not in a standard deviation scale.
sd_y_est1
: The standard deviation for the trait inferred from the reported sample size, median standard errors for the SNP-trait assocations and SNP variances.
sd_y_est2
: The standard deviation for the trait inferred from the reported sample size, Z statistics for the SNP-trait effects (beta/se) and allele frequency.
r2 metrics
Sum of variance explained, calculated from the clumped top hits sample.
r2_sum<*>
: r2
statistics under various assumptions
1
: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var1}}}\), \(\texttt{var1} = 1\).2
: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var2}}}\), \(\texttt{var2} = {\widehat{\texttt{sd1}}_{y}}^2\),3
: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var3}}}\), \(\texttt{var3} = {\widehat{\texttt{sd2}}_{y}}^2\),4
: \(r^2 = \sum_j{\frac{F_j}{F_j + n - 2}}\), \(F = \frac{\beta_j^2}{{se}_j^2}\).LDSC metrics
Metrics from LD regression
ldsc_nsnp_merge_refpanel_ld
: Number of remaining SNPs after merging with reference panel LD.ldsc_nsnp_merge_regression_ld
: Number of remaining SNPs after merging with regression SNP LD.ldsc_observed_scale_h2_{beta,se}
Coefficient value and SE for total observed scale h2.ldsc_intercept_{beta,se}
: Coefficient value and SE for intercept. Intercept is expected to be 1.ldsc_lambda_gc
: Lambda GC statistics.ldsc_mean_chisq
: Mean \(\chi^2\) statistics.ldsc_ratio
: \(\frac{\texttt{ldsc_intercept_beta} - 1}{\texttt{ldsc_mean_chisq} - 1}\), the proportion of the inflation in the mean \(\chi^2\) that the LD Score regression intercepts ascribes to causes other than polygenic heritability. The value of ratio should be close to zero, though in practice values of 0.1-0.2 are not uncommon, probably due to sample/reference LD Score mismatch or model misspecification (e.g., low LD variants have slightly higher \(h^2\) per SNP).Flags
When a metric needs attention, the flag should return TRUE.
af_correlation
: abs(af_correlation)
< 0.7.inflation_factor
: inflation_factor
> 1.2.n
: n
(max reported sample size) < 10000.is_snpid_non_unique
: NOT is_snpid_unique
.mean_EFFECT_nonfinite
: mean(EFFECT)
is NA
, NaN
, or Inf
.mean_EFFECT_05
: abs(mean(EFFECT))
> 0.5.mean_EFFECT_01
: abs(mean(EFFECT))
> 0.1.mean_chisq
: ldsc_mean_chisq
> 1.3 or ldsc_mean_chisq
< 0.7.n_p_sig
: n_p_sig
> 1000.miss_<*>
: n_miss_<*>
/ n_snps
> 0.01.ldsc_ratio
: ldsc_ratio
> 0.5ldsc_intercept_beta
: ldsc_intercept_beta
> 1.5n_clumped_hits
: n_clumped_hits
> 1000r2_sum<*>
: r2_sum<*>
> 0.5Plots
skim_type | skim_variable | n_missing | complete_rate | character.min | character.max | character.empty | character.n_unique | character.whitespace | numeric.mean | numeric.sd | numeric.p0 | numeric.p25 | numeric.p50 | numeric.p75 | numeric.p100 | numeric.hist |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
character | ID | 0 | 1.0000000 | 3 | 42 | 0 | 2189141 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | REF | 0 | 1.0000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
character | ALT | 0 | 1.0000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.599715e+00 | 5.663765e+00 | 1.0000e+00 | 4.000000e+00 | 8.000000e+00 | 1.200000e+01 | 2.300000e+01 | ▇▅▅▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.873459e+07 | 5.573775e+07 | 1.1523e+04 | 3.245190e+07 | 7.008414e+07 | 1.143625e+08 | 2.491808e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | -3.337000e-04 | 4.030890e-02 | -6.5000e-01 | -2.500000e-02 | -3.000000e-04 | 2.400000e-02 | 9.400000e-01 | ▁▅▇▁▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 3.818760e-02 | 1.240550e-02 | 2.7000e-02 | 3.000000e-02 | 3.400000e-02 | 4.300000e-02 | 5.100000e-01 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.986148e-01 | 2.889840e-01 | 5.0000e-07 | 2.500000e-01 | 5.000000e-01 | 7.499995e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.987292e-01 | 2.889638e-01 | 3.0000e-07 | 2.480198e-01 | 4.981399e-01 | 7.494575e-01 | 1.000000e+00 | ▇▇▇▇▇ |
numeric | AF | 686 | 0.9996866 | NA | NA | NA | NA | NA | 3.811686e-01 | 2.565483e-01 | 4.0000e-03 | 1.590000e-01 | 3.260000e-01 | 5.750000e-01 | 9.960000e-01 | ▇▆▅▃▂ |
numeric | AF_reference | 18366 | 0.9916104 | NA | NA | NA | NA | NA | 3.809003e-01 | 2.427606e-01 | 1.9970e-04 | 1.775160e-01 | 3.294730e-01 | 5.597040e-01 | 1.000000e+00 | ▇▇▅▃▂ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 5.731109e+03 | 3.934484e+02 | 9.9300e+02 | 5.823000e+03 | 5.824000e+03 | 5.825000e+03 | 5.826000e+03 | ▁▁▁▁▇ |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | 723891 | rs2977670 | G | C | 0.0360 | 0.110 | 0.7400005 | 0.7434616 | 0.934 | 0.7799520 | 2485 |
1 | 752566 | rs3094315 | G | A | 0.0290 | 0.056 | 0.5999997 | 0.6045579 | 0.835 | 0.7182510 | 3444 |
1 | 754192 | rs3131968 | A | G | -0.0088 | 0.063 | 0.8900000 | 0.8889108 | 0.885 | 0.6785140 | 3048 |
1 | 768448 | rs12562034 | G | A | 0.1600 | 0.120 | 0.1800002 | 0.1824224 | 0.102 | 0.1918930 | 2979 |
1 | 775659 | rs2905035 | A | G | 0.0032 | 0.057 | 0.9500000 | 0.9552300 | 0.885 | 0.7450080 | 3622 |
1 | 776546 | rs12124819 | A | G | -0.0096 | 0.092 | 0.9199999 | 0.9168933 | 0.288 | 0.0756789 | 3472 |
1 | 777122 | rs2980319 | A | T | 0.0370 | 0.044 | 0.4000000 | 0.4003989 | 0.866 | 0.7472040 | 5825 |
1 | 779322 | rs4040617 | A | G | -0.0360 | 0.063 | 0.5700002 | 0.5677092 | 0.133 | 0.2264380 | 3311 |
1 | 780785 | rs2977612 | T | A | 0.0350 | 0.063 | 0.5700002 | 0.5785147 | 0.877 | 0.6693290 | 3446 |
1 | 785050 | rs2905062 | G | A | 0.0310 | 0.063 | 0.6300007 | 0.6226745 | 0.868 | 0.6269970 | 3446 |
CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
---|---|---|---|---|---|---|---|---|---|---|---|
22 | 51212875 | rs2238837 | A | C | 0.043 | 0.035 | 0.2200002 | 0.2192325 | 0.385 | 0.3724040 | 5509 |
22 | 51216564 | rs9616970 | T | C | 0.029 | 0.057 | 0.6100002 | 0.6109121 | 0.146 | 0.1563500 | 5143 |
22 | 51217134 | rs117417021 | A | G | 0.012 | 0.052 | 0.8200001 | 0.8174941 | 0.415 | 0.2671730 | 2940 |
22 | 51222100 | rs114553188 | G | T | -0.024 | 0.100 | 0.8200001 | 0.8103303 | 0.062 | 0.0880591 | 2940 |
22 | 51223637 | rs375798137 | G | A | -0.023 | 0.100 | 0.8200001 | 0.8180918 | 0.062 | 0.0788738 | 2940 |
22 | 51229805 | rs9616985 | T | C | -0.071 | 0.100 | 0.4899999 | 0.4777041 | 0.092 | 0.0730831 | 3173 |
23 | 35921591 | rs2204667 | C | G | 0.031 | 0.039 | 0.4199997 | 0.4266881 | 0.162 | NA | 5825 |
23 | 51666786 | rs14115 | A | G | 0.066 | 0.064 | 0.2999998 | 0.3024236 | 0.027 | NA | 5508 |
23 | 70163799 | rs1626496 | A | C | 0.045 | 0.054 | 0.4100001 | 0.4046568 | 0.069 | NA | 5825 |
23 | 118495837 | rs12882977 | G | A | 0.045 | 0.034 | 0.1800002 | 0.1856594 | 0.508 | 0.2307280 | 3622 |
1 723891 rs2977670 G C . PASS AF=0.934 ES:SE:LP:AF:SS:ID 0.036:0.11:0.130768:0.934:2485:rs2977670
1 752566 rs3094315 G A . PASS AF=0.835 ES:SE:LP:AF:SS:ID 0.029:0.056:0.221849:0.835:3444:rs3094315
1 754192 rs3131968 A G . PASS AF=0.885 ES:SE:LP:AF:SS:ID -0.0088:0.063:0.05061:0.885:3048:rs3131968
1 768448 rs12562034 G A . PASS AF=0.102 ES:SE:LP:AF:SS:ID 0.16:0.12:0.744727:0.102:2979:rs12562034
1 775659 rs2905035 A G . PASS AF=0.885 ES:SE:LP:AF:SS:ID 0.0032:0.057:0.0222764:0.885:3622:rs2905035
1 776546 rs12124819 A G . PASS AF=0.288 ES:SE:LP:AF:SS:ID -0.0096:0.092:0.0362122:0.288:3472:rs12124819
1 777122 rs2980319 A T . PASS AF=0.866 ES:SE:LP:AF:SS:ID 0.037:0.044:0.39794:0.866:5825:rs2980319
1 779322 rs4040617 A G . PASS AF=0.133 ES:SE:LP:AF:SS:ID -0.036:0.063:0.244125:0.133:3311:rs4040617
1 780785 rs2977612 T A . PASS AF=0.877 ES:SE:LP:AF:SS:ID 0.035:0.063:0.244125:0.877:3446:rs2977612
1 785050 rs2905062 G A . PASS AF=0.868 ES:SE:LP:AF:SS:ID 0.031:0.063:0.200659:0.868:3446:rs2905062
1 785989 rs2980300 T C . PASS AF=0.868 ES:SE:LP:AF:SS:ID 0.02:0.044:0.187087:0.868:5647:rs2980300
1 798026 rs4951864 C T . PASS AF=0.9 ES:SE:LP:AF:SS:ID -0.11:0.12:0.443698:0.9:2979:rs4951864
1 798801 rs12132517 G A . PASS AF=0.108 ES:SE:LP:AF:SS:ID 0.11:0.12:0.468521:0.108:2979:rs12132517
1 798959 rs11240777 G A . PASS AF=0.219 ES:SE:LP:AF:SS:ID 0.025:0.043:0.251812:0.219:5825:rs11240777
1 846864 rs950122 G C . PASS AF=0.138 ES:SE:LP:AF:SS:ID 0.0048:0.11:0.0132283:0.138:2563:rs950122
1 882033 rs2272756 G A . PASS AF=0.23 ES:SE:LP:AF:SS:ID -0.0028:0.076:0.0132283:0.23:3550:rs2272756
1 962210 rs3128126 A G . PASS AF=0.415 ES:SE:LP:AF:SS:ID -0.049:0.07:0.309804:0.415:3410:rs3128126
1 990380 rs3121561 C T . PASS AF=0.254 ES:SE:LP:AF:SS:ID -0.1:0.043:1.69897:0.254:5752:rs3121561
1 998501 rs3813193 G C . PASS AF=0.146 ES:SE:LP:AF:SS:ID -0.021:0.08:0.102373:0.146:3550:rs3813193
1 1003629 rs4075116 C T . PASS AF=0.734 ES:SE:LP:AF:SS:ID -0.024:0.034:0.318759:0.734:5753:rs4075116
1 1005806 rs3934834 C T . PASS AF=0.124 ES:SE:LP:AF:SS:ID -0.076:0.055:0.769551:0.124:5753:rs3934834
1 1017170 rs3766193 C G . PASS AF=0.587 ES:SE:LP:AF:SS:ID -0.02:0.032:0.275724:0.587:5825:rs3766193
1 1017197 rs3766192 C T . PASS AF=0.571 ES:SE:LP:AF:SS:ID -0.019:0.031:0.267606:0.571:5825:rs3766192
1 1017587 rs3766191 C T . PASS AF=0.124 ES:SE:LP:AF:SS:ID -0.091:0.056:1:0.124:5753:rs3766191
1 1018562 rs9442371 C T . PASS AF=0.608 ES:SE:LP:AF:SS:ID -0.015:0.03:0.21467:0.608:5825:rs9442371
1 1018704 rs9442372 A G . PASS AF=0.588 ES:SE:LP:AF:SS:ID -0.015:0.03:0.207608:0.588:5825:rs9442372
1 1021346 rs10907177 A G . PASS AF=0.137 ES:SE:LP:AF:SS:ID -0.085:0.055:0.920819:0.137:5753:rs10907177
1 1021415 rs3737728 A G . PASS AF=0.735 ES:SE:LP:AF:SS:ID -0.026:0.036:0.327902:0.735:5753:rs3737728
1 1021583 rs10907178 A C . PASS AF=0.112 ES:SE:LP:AF:SS:ID -0.06:0.068:0.420216:0.112:3550:rs10907178
1 1021695 rs9442398 A G . PASS AF=0.726 ES:SE:LP:AF:SS:ID -0.026:0.037:0.318759:0.726:5753:rs9442398
1 1022037 rs6701114 C T . PASS AF=0.585 ES:SE:LP:AF:SS:ID -0.022:0.034:0.283997:0.585:5825:rs6701114
1 1025301 rs9442400 T C . PASS AF=0.952 ES:SE:LP:AF:SS:ID -0.14:0.23:0.267606:0.952:1915:rs9442400
1 1026707 rs4074137 C A . PASS AF=0.623 ES:SE:LP:AF:SS:ID 0.029:0.053:0.236572:0.623:3550:rs4074137
1 1030565 rs6687776 C T . PASS AF=0.133 ES:SE:LP:AF:SS:ID -0.062:0.052:0.638272:0.133:5753:rs6687776
1 1030633 rs6678318 G A . PASS AF=0.134 ES:SE:LP:AF:SS:ID -0.1:0.055:1.18046:0.134:5251:rs6678318
1 1031540 rs9651273 A G . PASS AF=0.717 ES:SE:LP:AF:SS:ID -0.0084:0.041:0.0757207:0.717:5825:rs9651273
1 1036959 rs11579015 T C . PASS AF=0.046 ES:SE:LP:AF:SS:ID -0.083:0.056:0.853872:0.046:5753:rs11579015
1 1040026 rs6671356 T C . PASS AF=0.115 ES:SE:LP:AF:SS:ID -0.058:0.052:0.568636:0.115:5753:rs6671356
1 1046164 rs6666280 C T . PASS AF=0.062 ES:SE:LP:AF:SS:ID -0.065:0.058:0.585027:0.062:5752:rs6666280
1 1048955 rs4970405 A G . PASS AF=0.088 ES:SE:LP:AF:SS:ID -0.072:0.057:0.69897:0.088:5753:rs4970405
1 1049950 rs12726255 A G . PASS AF=0.115 ES:SE:LP:AF:SS:ID -0.06:0.056:0.537602:0.115:5753:rs12726255
1 1053452 rs4970409 G A . PASS AF=0.093 ES:SE:LP:AF:SS:ID -0.086:0.06:0.79588:0.093:5753:rs4970409
1 1060174 rs7548798 C T . PASS AF=0.314 ES:SE:LP:AF:SS:ID 0.071:0.071:0.49485:0.314:2916:rs7548798
1 1060608 rs17160824 G A . PASS AF=0.097 ES:SE:LP:AF:SS:ID -0.094:0.061:0.920819:0.097:5753:rs17160824
1 1061115 rs17160826 T C . PASS AF=0.051 ES:SE:LP:AF:SS:ID -0.1:0.063:0.958607:0.051:5753:rs17160826
1 1061152 rs12748370 T C . PASS AF=0.055 ES:SE:LP:AF:SS:ID -0.098:0.064:0.920819:0.055:5753:rs12748370
1 1061166 rs11807848 T C . PASS AF=0.389 ES:SE:LP:AF:SS:ID 0.0051:0.043:0.0409586:0.389:5753:rs11807848
1 1062638 rs9442373 C A . PASS AF=0.575 ES:SE:LP:AF:SS:ID -0.018:0.043:0.173925:0.575:5825:rs9442373
1 1064535 rs6682475 G C . PASS AF=0.766 ES:SE:LP:AF:SS:ID 0.041:0.075:0.229148:0.766:3622:rs6682475
1 1064979 rs2298217 C T . PASS AF=0.115 ES:SE:LP:AF:SS:ID -0.094:0.061:0.920819:0.115:5753:rs2298217