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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 /data/cromwell-executions/qc/57e34be8-352f-4f93-9d1d-0b7a687e067e/call-ldsc/inputs/562856187/ieu-b-30.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-30/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/
Beginning analysis at Fri Aug 21 01:29:43 2020
Reading summary statistics from /data/cromwell-executions/qc/57e34be8-352f-4f93-9d1d-0b7a687e067e/call-ldsc/inputs/562856187/ieu-b-30.vcf.gz ...
Read summary statistics for 27090670 SNPs.
Dropped 128540 SNPs with duplicated rs numbers.
Reading reference panel LD Score from /data/ref/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 /data/ref/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1220780 SNPs remain.
After merging with regression SNP LD, 1220780 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.1774 (0.0112)
Lambda GC: 1.9241
Mean Chi^2: 3.4242
Intercept: 1.3376 (0.0289)
Ratio: 0.1392 (0.0119)
Analysis finished at Fri Aug 21 01:34:34 2020
Total time elapsed: 4.0m:51.01s
{
"af_correlation": 0.9668,
"inflation_factor": 1.2184,
"mean_EFFECT": 0.0001,
"n": 562243,
"n_snps": 27090906,
"n_clumped_hits": 507,
"n_p_sig": 117809,
"n_mono": 0,
"n_ns": 0,
"n_mac": 67997,
"is_snpid_unique": false,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 0,
"n_miss_AF_reference": 2142622,
"n_est": 401285.6742,
"ratio_se_n": 0.8448,
"mean_diff": -0.0001,
"ratio_diff": 1.2433,
"sd_y_est1": 1.3843,
"sd_y_est2": 1.1695,
"r2_sum1": 0.0967,
"r2_sum2": 0.0505,
"r2_sum3": 0.0707,
"r2_sum4": 0.0991,
"ldsc_nsnp_merge_refpanel_ld": 1220780,
"ldsc_nsnp_merge_regression_ld": 1220780,
"ldsc_observed_scale_h2_beta": 0.1774,
"ldsc_observed_scale_h2_se": 0.0112,
"ldsc_intercept_beta": 1.3376,
"ldsc_intercept_se": 0.0289,
"ldsc_lambda_gc": 1.9241,
"ldsc_mean_chisq": 3.4242,
"ldsc_ratio": 0.1393
}
name | value |
---|---|
name | value |
af_correlation | FALSE |
inflation_factor | TRUE |
n | FALSE |
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 | 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 | 48 | 0.9999982 | 3 | 64 | 0 | 27089072 | 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 | 8.652631e+00 | 5.781882e+00 | 1.000000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.200000e+01 | ▇▅▃▂▂ |
numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.898692e+07 | 5.625017e+07 | 56.000000 | 3.283874e+07 | 6.963686e+07 | 1.148587e+08 | 2.492398e+08 | ▇▆▅▂▁ |
numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | 1.297000e-04 | 1.792292e-01 | -74.136800 | -2.199700e-02 | 5.700000e-05 | 2.253200e-02 | 4.481330e+01 | ▁▁▁▇▁ |
numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | 8.649400e-02 | 1.642921e-01 | 0.001799 | 6.855000e-03 | 4.628900e-02 | 1.180820e-01 | 8.903050e+01 | ▇▁▁▁▁ |
numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.663526e-01 | 3.000334e-01 | 0.000000 | 1.983741e-01 | 4.565728e-01 | 7.267098e-01 | 1.000000e+00 | ▇▆▆▆▆ |
numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.663522e-01 | 3.000346e-01 | 0.000000 | 1.983951e-01 | 4.565628e-01 | 7.266991e-01 | 1.000000e+00 | ▇▆▆▆▆ |
numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | 7.845300e-02 | 1.921642e-01 | 0.000025 | 1.720000e-04 | 8.200000e-04 | 2.239480e-02 | 9.999750e-01 | ▇▁▁▁▁ |
numeric | AF_reference | 2142622 | 0.9209099 | NA | NA | NA | NA | NA | 8.923040e-02 | 1.918093e-01 | 0.000000 | 1.397800e-03 | 7.188500e-03 | 5.211660e-02 | 1.000000e+00 | ▇▁▁▁▁ |
numeric | N | 0 | 1.0000000 | NA | NA | NA | NA | NA | 4.582429e+05 | 1.388749e+05 | 683.000000 | 4.444420e+05 | 4.890530e+05 | 5.581440e+05 | 5.622430e+05 | ▁▁▁▃▇ |
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 | 16141 | rs529651976 | C | T | 0.204886 | 0.210882 | 0.3312547 | 0.3312660 | 0.000523 | 0.0025958 | 36410 |
1 | 49298 | rs200943160 | T | C | 0.013640 | 0.011139 | 0.2207257 | 0.2207537 | 0.823664 | 0.7821490 | 36410 |
1 | 54353 | rs140052487 | C | A | 0.082686 | 0.098517 | 0.4012989 | 0.4012971 | 0.001861 | 0.0089856 | 36410 |
1 | 54564 | rs558796213 | G | T | 0.081243 | 0.114214 | 0.4768974 | 0.4768843 | 0.000141 | 0.0041933 | 408032 |
1 | 54591 | rs561234294 | A | G | -0.118643 | 0.118275 | 0.3157941 | 0.3158071 | 0.001561 | 0.0035942 | 36410 |
1 | 54712 | rs552304420 | T | C | 0.086113 | 0.043579 | 0.0481682 | 0.0481524 | 0.010412 | 0.0109824 | 36410 |
1 | 54815 | rs568686875 | T | C | -0.028470 | 0.184712 | 0.8774860 | 0.8775058 | 0.000480 | 0.0019968 | 36410 |
1 | 55326 | rs3107975 | T | C | -0.013205 | 0.032807 | 0.6873374 | 0.6873120 | 0.019657 | 0.0459265 | 36410 |
1 | 55351 | rs531766459 | T | A | -0.044334 | 0.060044 | 0.4603127 | 0.4602966 | 0.000503 | 0.0007987 | 408032 |
1 | 55405 | rs372455836 | C | T | 0.049440 | 0.055084 | 0.3694214 | 0.3694317 | 0.006910 | 0.0075879 | 36410 |
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 |
22 | 51237137 | rs534739169 | A | C | -0.079274 | 0.087784 | 0.3664933 | 0.3664954 | 0.000215 | 0.0001997 | 444442 |
22 | 51237410 | rs530437591 | G | A | 0.013528 | 0.056995 | 0.8123689 | 0.8123821 | 0.000358 | 0.0017971 | 444442 |
22 | 51237486 | rs149820726 | G | C | 0.063270 | 0.157960 | 0.6887744 | 0.6887556 | 0.000536 | 0.0025958 | 36410 |
22 | 51238275 | rs202031343 | C | T | 0.148257 | 0.102879 | 0.1495481 | 0.1495617 | 0.001263 | 0.0009984 | 36410 |
22 | 51238307 | rs577028785 | A | G | 0.006675 | 0.226187 | 0.9764459 | 0.9764571 | 0.000261 | 0.0015974 | 36410 |
22 | 51238349 | rs546389903 | T | C | -0.193449 | 0.284541 | 0.4966072 | 0.4965910 | 0.000165 | 0.0013978 | 36410 |
22 | 51238660 | rs569936315 | A | G | -0.047204 | 0.151800 | 0.7558385 | 0.7558297 | 0.000066 | 0.0167732 | 444442 |
22 | 51239586 | rs535432390 | T | G | -0.027704 | 0.020913 | 0.1852371 | 0.1852620 | 0.002968 | 0.0001997 | 490028 |
22 | 51239678 | rs573137567 | G | T | 0.057569 | 0.084080 | 0.4935475 | 0.4935376 | 0.001895 | 0.0233626 | 36410 |
22 | 51244163 | rs199560686 | A | G | 0.008184 | 0.205218 | 0.9681751 | 0.9681892 | 0.000054 | 0.0077875 | 444442 |
1 16141 rs529651976 C T . PASS AF=0.000523 ES:SE:LP:AF:SS:ID 0.204886:0.210882:0.479838:0.000523:36410:rs529651976
1 49298 rs10399793 T C . PASS AF=0.823664 ES:SE:LP:AF:SS:ID 0.01364:0.011139:0.656147:0.823664:36410:rs10399793
1 54353 rs140052487 C A . PASS AF=0.001861 ES:SE:LP:AF:SS:ID 0.082686:0.098517:0.396532:0.001861:36410:rs140052487
1 54564 rs558796213 G T . PASS AF=0.000141 ES:SE:LP:AF:SS:ID 0.081243:0.114214:0.321575:0.000141:408032:rs558796213
1 54591 rs561234294 A G . PASS AF=0.001561 ES:SE:LP:AF:SS:ID -0.118643:0.118275:0.500596:0.001561:36410:rs561234294
1 54712 rs573184866 T C . PASS AF=0.010412 ES:SE:LP:AF:SS:ID 0.086113:0.043579:1.31724:0.010412:36410:rs573184866
1 54815 rs568686875 T C . PASS AF=0.00048 ES:SE:LP:AF:SS:ID -0.02847:0.184712:0.0567598:0.00048:36410:rs568686875
1 55326 rs3107975 T C . PASS AF=0.019657 ES:SE:LP:AF:SS:ID -0.013205:0.032807:0.16283:0.019657:36410:rs3107975
1 55351 rs531766459 T A . PASS AF=0.000503 ES:SE:LP:AF:SS:ID -0.044334:0.060044:0.336947:0.000503:408032:rs531766459
1 55405 rs372455836 C T . PASS AF=0.00691 ES:SE:LP:AF:SS:ID 0.04944:0.055084:0.432478:0.00691:36410:rs372455836
1 55416 rs193242050 G A . PASS AF=9.4e-05 ES:SE:LP:AF:SS:ID 0.024508:0.162627:0.0554226:9.4e-05:444442:rs193242050
1 55427 rs183189405 T C . PASS AF=0.002378 ES:SE:LP:AF:SS:ID -0.029572:0.10776:0.105819:0.002378:36410:rs183189405
1 56586 rs541979596 G A . PASS AF=0.001497 ES:SE:LP:AF:SS:ID -0.087601:0.130091:0.300406:0.001497:36410:rs541979596
1 57095 rs553759011 T C . PASS AF=3.6e-05 ES:SE:LP:AF:SS:ID 0.222206:0.223963:0.493348:3.6e-05:408032:rs553759011
1 57183 rs368339209 A G . PASS AF=2.8e-05 ES:SE:LP:AF:SS:ID 0.27325:0.367894:0.339467:2.8e-05:408032:rs368339209
1 61804 rs567421057 G A . PASS AF=7.4e-05 ES:SE:LP:AF:SS:ID 0.239626:0.164391:0.838866:7.4e-05:408032:rs567421057
1 61993 rs190553843 C T . PASS AF=9.5e-05 ES:SE:LP:AF:SS:ID 0.192671:0.157861:0.65316:9.5e-05:444442:rs190553843
1 62124 rs528478839 G A . PASS AF=0.00018 ES:SE:LP:AF:SS:ID 0.397854:0.393755:0.505449:0.00018:36410:rs528478839
1 62157 rs10399597 G A . PASS AF=0.00014 ES:SE:LP:AF:SS:ID 0.151662:0.096676:0.932951:0.00014:444442:rs10399597
1 62509 rs534313866 T C . PASS AF=0.000544 ES:SE:LP:AF:SS:ID 0.198491:0.212872:0.454569:0.000544:36410:rs534313866
1 62617 rs543126209 T G . PASS AF=9.3e-05 ES:SE:LP:AF:SS:ID 0.036725:0.16193:0.0858817:9.3e-05:444442:rs543126209
1 64670 rs545257650 A G . PASS AF=0.000147 ES:SE:LP:AF:SS:ID -0.104839:0.117257:0.430315:0.000147:444442:rs545257650
1 64908 rs540391097 A G . PASS AF=0.000642 ES:SE:LP:AF:SS:ID -0.034953:0.053777:0.28758:0.000642:444442:rs540391097
1 65009 rs563233355 G A . PASS AF=0.000292 ES:SE:LP:AF:SS:ID 0.091127:0.07334:0.669542:0.000292:444442:rs563233355
1 65974 rs531923826 A G . PASS AF=0.004619 ES:SE:LP:AF:SS:ID -0.085504:0.068244:0.677332:0.004619:36410:rs531923826
1 67179 rs149952626 C G . PASS AF=0.00014 ES:SE:LP:AF:SS:ID -0.108757:0.344577:0.123612:0.00014:36410:rs149952626
1 67223 rs78676975 C T . PASS AF=0.000484 ES:SE:LP:AF:SS:ID 0.071448:0.245207:0.113077:0.000484:36410:rs78676975
1 67224 rs566526215 G A . PASS AF=0.000161 ES:SE:LP:AF:SS:ID 0.004988:0.124951:0.0140609:0.000161:444442:rs566526215
1 67631 rs533896527 G C . PASS AF=0.0002 ES:SE:LP:AF:SS:ID -0.059728:0.095267:0.27514:0.0002:444442:rs533896527
1 69594 rs144967600 T C . PASS AF=0.00074 ES:SE:LP:AF:SS:ID -0.10272:0.185953:0.236049:0.00074:36410:rs144967600
1 69610 rs376022826 C T . PASS AF=0.000218 ES:SE:LP:AF:SS:ID 0.103237:0.378603:0.105075:0.000218:36410:rs376022826
1 70317 rs570011908 G A . PASS AF=0.000635 ES:SE:LP:AF:SS:ID -0.006827:0.2034:0.011793:0.000635:36410:rs570011908
1 72526 rs547237130 A G . PASS AF=0.038254 ES:SE:LP:AF:SS:ID 0.004603:0.022997:0.0750269:0.038254:36410:rs547237130
1 73093 rs535508237 G A . PASS AF=0.004009 ES:SE:LP:AF:SS:ID -0.015467:0.068491:0.0854855:0.004009:36410:rs535508237
1 77763 rs557457745 G A . PASS AF=0.005348 ES:SE:LP:AF:SS:ID -0.06144:0.062396:0.488425:0.005348:36410:rs557457745
1 78942 rs372315362 C G . PASS AF=0.00803 ES:SE:LP:AF:SS:ID 0.008269:0.048369:0.0633656:0.00803:36410:rs372315362
1 79033 rs2462495 A G . PASS AF=0.998702 ES:SE:LP:AF:SS:ID -0.011079:0.047298:0.0889538:0.998702:408032:rs2462495
1 79137 rs143777184 A T . PASS AF=0.001023 ES:SE:LP:AF:SS:ID -0.023925:0.043042:0.237819:0.001023:444442:rs143777184
1 79188 rs534350410 G T . PASS AF=0.001123 ES:SE:LP:AF:SS:ID -0.123423:0.145978:0.400295:0.001123:36410:rs534350410
1 82957 rs189774606 C T . PASS AF=0.000468 ES:SE:LP:AF:SS:ID 0.019902:0.056268:0.140519:0.000468:444442:rs189774606
1 82961 rs537801787 C T . PASS AF=0.000513 ES:SE:LP:AF:SS:ID 0.059909:0.211141:0.109796:0.000513:36410:rs537801787
1 82994 rs574556077 A G . PASS AF=0.000185 ES:SE:LP:AF:SS:ID 0.107309:0.316355:0.134028:0.000185:36410:rs574556077
1 83170 rs562997564 G T . PASS AF=0.001239 ES:SE:LP:AF:SS:ID 0.176298:0.138248:0.694202:0.001239:36410:rs562997564
1 83771 rs189906733 T G . PASS AF=0.000664 ES:SE:LP:AF:SS:ID -0.012065:0.049139:0.0936407:0.000664:444442:rs189906733
1 84139 rs183605470 A T . PASS AF=0.020806 ES:SE:LP:AF:SS:ID -0.005258:0.031329:0.0621337:0.020806:36410:rs183605470
1 84618 rs576633512 C T . PASS AF=0.000712 ES:SE:LP:AF:SS:ID -0.035167:0.184108:0.0713466:0.000712:36410:rs576633512
1 85622 rs185273034 A T . PASS AF=0.001245 ES:SE:LP:AF:SS:ID 0.131455:0.137799:0.468402:0.001245:36410:rs185273034
1 85892 rs147185795 A G . PASS AF=0.000455 ES:SE:LP:AF:SS:ID -0.066499:0.064435:0.519928:0.000455:444442:rs147185795
1 86028 rs114608975 T C . PASS AF=0.061235 ES:SE:LP:AF:SS:ID -0.015394:0.018023:0.40559:0.061235:36410:rs114608975
1 86192 rs548281277 G A . PASS AF=0.03455 ES:SE:LP:AF:SS:ID 0.005175:0.024172:0.0806719:0.03455:36410:rs548281277