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: rs1557055405
rs1557055405
21 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
dbSNP: rs1057518760
rs1057518760
4 1.000 0.080 2 240788182 missense variant C/T snv 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1208636573
rs1208636573
15 0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs587778779
rs587778779
14 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs622288
rs622288
15 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0