Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912651
rs121912651
41 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.710 1.000 2 1991 2016
dbSNP: rs716274
rs716274
1 1.000 0.071 11 103547430 intergenic variant A/G snp 0.51 0.710 1.000 1 2011 2011
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.700 2 2014 2015
dbSNP: rs10118776
rs10118776
1 1.000 0.071 9 6227418 intron variant G/A snp 0.95 0.700 1 2017 2017
dbSNP: rs1023835002
rs1023835002
10 0.756 0.250 15 44711547 start lost A/G snp 0.700 1 2016 2016
dbSNP: rs104886003
rs104886003
52 0.580 0.393 3 179218303 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs1057519747
rs1057519747
17 0.715 0.250 17 7675094 missense variant A/C,G,T snp 0.700 1 2016 2016
dbSNP: rs1057519877
rs1057519877
10 0.756 0.250 15 44711549 start lost G/A snp 0.700 1 2016 2016
dbSNP: rs1057519879
rs1057519879
10 0.756 0.250 15 44711548 start lost T/C,G snp 0.700 1 2016 2016
dbSNP: rs1057519927
rs1057519927
16 0.724 0.179 3 179218295 missense variant A/C,G,T snp 0.700 1 2016 2016
dbSNP: rs1057519985
rs1057519985
15 0.724 0.250 17 7673763 missense variant T/A,C,G snp 0.700 1 2016 2016
dbSNP: rs1057519989
rs1057519989
15 0.724 0.214 17 7674233 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs1057519990
rs1057519990
18 0.699 0.321 17 7673824 missense variant C/A,G,T snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs1057519991
rs1057519991
19 0.692 0.214 17 7675076 missense variant T/A,C,G snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs1057520003
rs1057520003
20 0.685 0.286 17 7675996 missense variant T/G snp 0.700 1 2016 2016
dbSNP: rs1057520005
rs1057520005
11 0.769 0.214 17 7673800 missense variant C/A,G snp 0.700 1 2016 2016
dbSNP: rs1057520006
rs1057520006
12 0.769 0.214 17 7673799 missense variant A/C,G,T snp 0.700 1 2016 2016
dbSNP: rs11540652
rs11540652
40 0.618 0.464 17 7674220 missense variant C/A,G,T snp 1.2E-05 0.700 1 2016 2016
dbSNP: rs11571833
rs11571833
23 0.652 0.250 13 32398489 stop gained A/T snp 6.6E-03 5.4E-03 0.700 1 2017 2017
dbSNP: rs117729306
rs117729306
1 1.000 0.071 11 8465623 non coding transcript exon variant T/C snp 6.3E-03 0.700 1 2017 2017
dbSNP: rs121909224
rs121909224
20 0.692 0.464 10 87933147 stop gained C/G,T snp 1.2E-05 0.700 1 2016 2016
dbSNP: rs121909229
rs121909229
20 0.692 0.321 10 87933148 missense variant G/A,C,T snp 0.700 1 2016 2016
dbSNP: rs121912666
rs121912666
29 0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06 0.700 1 2016 2016
dbSNP: rs121913273
rs121913273
29 0.638 0.357 3 179218294 missense variant G/A,C snp 0.700 1 2016 2016
dbSNP: rs121913274
rs121913274
33 0.626 0.286 3 179218304 missense variant A/C,G,T snp 0.700 1 2016 2016