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: rs574384755
rs574384755
1 1.000 20 63490507 missense variant G/A snv 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs1200336864
rs1200336864
1 1.000 20 13625199 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1325951163
rs1325951163
1 1.000 7 140801517 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1569513017
rs1569513017
1 1.000 X 77508625 frameshift variant A/- del 0.700 0
dbSNP: rs1057517846
rs1057517846
2 1.000 16 78108446 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1057518699
rs1057518699
2 0.925 0.200 X 65524113 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1310897090
rs1310897090
2 1.000 2 15467394 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs757533393
rs757533393
2 1.000 20 32216664 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1057518789
rs1057518789
2 0.925 0.040 16 3728803 stop gained G/A snv 0.700 0
dbSNP: rs1057518932
rs1057518932
2 1.000 17 44855003 missense variant T/A snv 0.700 0
dbSNP: rs1060499738
rs1060499738
2 1.000 7 100647014 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1060499739
rs1060499739
2 1.000 3 101757754 missense variant A/G snv 0.700 0
dbSNP: rs1060499744
rs1060499744
2 1.000 8 38138822 missense variant A/G snv 0.700 0
dbSNP: rs1060499759
rs1060499759
2 1.000 X 77688879 missense variant A/T snv 0.700 0
dbSNP: rs1060499760
rs1060499760
2 1.000 X 77683580 missense variant G/A snv 0.700 0
dbSNP: rs1085307134
rs1085307134
2 0.925 0.040 8 143816728 missense variant C/T snv 0.700 0
dbSNP: rs1131692268
rs1131692268
2 0.925 0.240 11 118504037 frameshift variant A/- delins 0.700 0
dbSNP: rs138076291
rs138076291
2 0.925 0.040 3 47410284 missense variant C/T snv 8.4E-06 1.4E-05 0.700 0
dbSNP: rs147293860
rs147293860
2 0.925 0.040 3 47409268 missense variant A/C;G snv 4.0E-06; 8.0E-05 0.700 0
dbSNP: rs150712932
rs150712932
2 0.925 0.040 3 47408451 missense variant C/T snv 1.4E-04 1.6E-04 0.700 0
dbSNP: rs1560212751
rs1560212751
2 1.000 3 51208772 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1560414254
rs1560414254
2 1.000 3 51312486 frameshift variant ACTT/- delins 0.700 0
dbSNP: rs1564069651
rs1564069651
2 1.000 9 85619123 missense variant T/C snv 0.700 0
dbSNP: rs1569097392
rs1569097392
2 1.000 22 50676625 stop gained C/T snv 0.700 0
dbSNP: rs561330579
rs561330579
2 1.000 1 109258951 missense variant C/G;T snv 7.3E-05 0.700 0