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: rs2345443
rs2345443
3 16 78191736 intron variant A/C;G snv 0.700 1.000 2 2019 2019
dbSNP: rs11693320
rs11693320
1 2 114574293 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12449066
rs12449066
1 16 79143396 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12520489
rs12520489
1 5 43515178 intron variant A/C;G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2292305
rs2292305
4 0.882 0.080 15 39588621 missense variant A/C;G snv 4.0E-06; 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2882485
rs2882485
1 2 202115530 non coding transcript exon variant A/C;G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs41434646
rs41434646
3 2 184295785 intron variant A/C;G snv 4.7E-03 0.700 1.000 1 2017 2017
dbSNP: rs6569725
rs6569725
1 6 131081063 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6658835
rs6658835
2 1.000 1 218347653 intron variant A/C;G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs6664881
rs6664881
1 1 170836486 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs933738
rs933738
2 12 49549339 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs224187
rs224187
1 16 3153292 downstream gene variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2545339
rs2545339
1 5 150531657 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3747973
rs3747973
1 1 205708020 downstream gene variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs913679
rs913679
1 20 50353535 intergenic variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10886022
rs10886022
1 10 117018568 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs203183
rs203183
1 18 40495138 intergenic variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2057388
rs2057388
1 1 186122944 splice region variant A/C;T snv 0.47; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2294214
rs2294214
6 0.882 0.040 6 22056694 splice region variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs73464505
rs73464505
1 11 45101435 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9308315
rs9308315
1 12 102410115 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10141786
rs10141786
2 14 74350715 intron variant A/G snv 0.67 0.700 1.000 2 2019 2019
dbSNP: rs12634907
rs12634907
2 3 158509097 intron variant A/G snv 0.28 0.700 1.000 2 2019 2019
dbSNP: rs3791679
rs3791679
11 0.925 0.120 2 55869757 intron variant A/G snv 0.20 0.700 1.000 2 2019 2019
dbSNP: rs4952564
rs4952564
2 2 42016710 intron variant A/G snv 0.43 0.700 1.000 2 2019 2019