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: rs1036332
rs1036332
3 1 199043349 intron variant A/C snv 0.70 0.700 1.000 2 2016 2019
dbSNP: rs11204682
rs11204682
4 1 150623061 intron variant G/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs114269697
rs114269697
3 1.000 0.040 1 64848529 intron variant C/A snv 7.3E-03 0.700 1.000 2 2016 2019
dbSNP: rs159963
rs159963
3 1.000 0.040 1 8444361 intron variant C/A snv 0.52 0.700 1.000 2 2016 2019
dbSNP: rs2075995
rs2075995
3 1 23520972 missense variant C/A snv 0.45 0.39 0.700 1.000 2 2016 2019
dbSNP: rs2296618
rs2296618
2 1 198697103 intron variant A/G snv 0.21 0.700 1.000 2 2016 2019
dbSNP: rs6684992
rs6684992
2 1 87286317 intergenic variant A/T snv 0.20 0.700 1.000 2 2016 2018
dbSNP: rs1004870
rs1004870
1 1 41905116 intron variant C/T snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs1013910
rs1013910
1 1 116868761 intergenic variant G/A snv 0.91 0.700 1.000 1 2019 2019
dbSNP: rs1071849
rs1071849
1 1 26320235 missense variant A/G snv 0.67 0.70 0.700 1.000 1 2019 2019
dbSNP: rs10794666
rs10794666
1 1 24924339 intron variant C/T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10864462
rs10864462
1 1 10552101 intron variant A/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs1099448
rs1099448
1 1 173262759 intergenic variant C/T snv 0.58 0.700 1.000 1 2019 2019
dbSNP: rs11164971
rs11164971
1 1 91576688 regulatory region variant T/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs111759324
rs111759324
2 1 101186966 upstream gene variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11264296
rs11264296
1 1 155022274 intron variant T/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs11265402
rs11265402
1 1 160443300 regulatory region variant C/T snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs114695117
rs114695117
1 1 64743428 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11576941
rs11576941
1 1 46409395 intron variant G/T snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs11583398
rs11583398
1 1 206795610 intron variant C/A snv 9.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs11588625
rs11588625
HLX
1 1 220885504 downstream gene variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1208984
rs1208984
1 1 11935119 intron variant A/G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs12239046
rs12239046
9 1 247438293 intron variant T/C snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs12403425
rs12403425
1 1 197845693 intergenic variant C/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs12408934
rs12408934
2 1 64957764 intron variant G/A snv 6.1E-02 0.700 1.000 1 2016 2016