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: rs104894697
rs104894697
1 1.000 0.120 19 17816972 missense variant G/A;C snv 3.5E-04; 4.0E-06 0.800 1.000 3 2000 2003
dbSNP: rs104894698
rs104894698
1 1.000 0.120 19 17816946 missense variant G/A snv 4.0E-06 2.1E-05 0.800 1.000 3 2000 2003
dbSNP: rs121912555
rs121912555
1 1.000 0.120 19 17816920 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.800 1.000 3 2000 2003
dbSNP: rs121918303
rs121918303
1 1.000 0.120 13 31777398 missense variant A/C;G snv 4.6E-03; 4.0E-06 0.740 0.800 5 2002 2011
dbSNP: rs121912556
rs121912556
1 1.000 0.120 19 17816945 missense variant C/T snv 6.9E-04 2.7E-04 0.710 1.000 1 2018 2018
dbSNP: rs121918459
rs121918459
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 4 2001 2012
dbSNP: rs1568303086
rs1568303086
5 0.882 0.320 18 55228877 missense variant C/A snv 0.700 1.000 2 2011 2014
dbSNP: rs1057516033
rs1057516033
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1060499548
rs1060499548
27 0.724 0.440 9 130872961 missense variant G/A 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: rs1480612338
rs1480612338
4 0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06 0.700 1.000 1 2018 2018
dbSNP: rs1554904772
rs1554904772
4 0.882 0.280 11 1443490 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1565573786
rs1565573786
6 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1057518944
rs1057518944
9 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057519389
rs1057519389
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057519925
rs1057519925
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1114167291
rs1114167291
10 0.790 0.280 16 89281225 stop gained C/A snv 0.700 0
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121918458
rs121918458
8 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 0
dbSNP: rs121918463
rs121918463
6 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.700 0
dbSNP: rs122445099
rs122445099
6 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
dbSNP: rs138632121
rs138632121
13 0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 0.700 0
dbSNP: rs141498002
rs141498002
8 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
dbSNP: rs143044921
rs143044921
8 0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 0.700 0
dbSNP: rs1553329427
rs1553329427
4 0.851 0.200 2 31580683 frameshift variant A/- del 0.700 0