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: rs111854391
rs111854391
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs113812345
rs113812345
10 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
dbSNP: rs121913528
rs121913528
12 0.851 0.160 12 25227349 missense variant C/A;T snv 0.700 0
dbSNP: rs1316347883
rs1316347883
4 0.851 0.080 10 72007935 missense variant G/A;C snv 6.9E-06 0.700 0
dbSNP: rs137854461
rs137854461
12 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
dbSNP: rs1443187318
rs1443187318
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
dbSNP: rs1554317002
rs1554317002
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1554700718
rs1554700718
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1555398397
rs1555398397
10 0.807 0.240 15 48485436 missense variant C/T snv 0.700 0
dbSNP: rs387906846
rs387906846
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs397515789
rs397515789
10 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
dbSNP: rs397515804
rs397515804
11 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
dbSNP: rs771866012
rs771866012
8 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs864321670
rs864321670
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs1555743003
rs1555743003
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs140291094
rs140291094
11 0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs2272515
rs2272515
3 0.882 0.080 3 120416036 intron variant T/C snv 0.36 0.34 0.010 1.000 1 2019 2019