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: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs139073416
rs139073416
9 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0
dbSNP: rs1553200431
rs1553200431
8 0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 0.700 0
dbSNP: rs397517148
rs397517148
27 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs1559470315
rs1559470315
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
dbSNP: rs1554333853
rs1554333853
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs387907260
rs387907260
22 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs796052686
rs796052686
22 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs1554846212
rs1554846212
9 0.851 0.160 10 75030037 missense variant C/T snv 0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
16 0.882 0.080 10 28614666 stop gained C/T snv 0.700 0
dbSNP: rs1032242817
rs1032242817
17 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs138659167
rs138659167
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 0
dbSNP: rs121918455
rs121918455
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs779027563
rs779027563
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1057519642
rs1057519642
3 1.000 0.160 18 2697898 missense variant A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1135402740
rs1135402740
4 0.925 0.240 18 2674018 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518864
rs1057518864
7 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1568269273
rs1568269273
18 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
dbSNP: rs749203329
rs749203329
7 0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs1555939456
rs1555939456
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs1557036768
rs1557036768
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0