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: rs763004980
rs763004980
2 3 128906139 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs150283105
rs150283105
2 3 128909410 missense variant C/T snv 7.2E-05 1.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs201439531
rs201439531
11 0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs769234940
rs769234940
11 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs139632595
rs139632595
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
dbSNP: rs772037717
rs772037717
8 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs201650281
rs201650281
8 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs1567498374
rs1567498374
5 0.882 0.160 16 75630493 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1555014957
rs1555014957
PC
4 1.000 0.120 11 66850270 missense variant C/A snv 0.700 0
dbSNP: rs1569190079
rs1569190079
10 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
dbSNP: rs1135402725
rs1135402725
6 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs104894375
rs104894375
2 1.000 0.040 12 98595490 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs372949028
rs372949028
13 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs752298579
rs752298579
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 0
dbSNP: rs35135520
rs35135520
12 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
dbSNP: rs776019250
rs776019250
12 0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs374661051
rs374661051
3 0.925 0.040 16 21965440 missense variant C/A;G;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1242465339
rs1242465339
3 1.000 0.080 19 29207763 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1568344751
rs1568344751
3 1.000 0.080 19 29208159 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1568346416
rs1568346416
3 1.000 0.080 19 29213078 missense variant A/T snv 0.700 0
dbSNP: rs1157637439
rs1157637439
4 0.882 0.120 6 30920187 missense variant A/G snv 0.010 1.000 1 2018 2018