Source: ALL
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: rs121912708
rs121912708
ALDH7A1
3 1.000 0.040 5 126583997 stop gained G/A;C snv 6.0E-05; 4.0E-06 0.700 0
dbSNP: rs140845195
rs140845195
ALDH7A1
3 1.000 0.040 5 126545020 splice acceptor variant C/A;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs1567053134
rs1567053134
CYP11A1
8 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
dbSNP: rs564185858
rs564185858
ADD3
4 0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
7 1.000 X 71132465 missense variant G/A snv 0.700 0
dbSNP: rs1559720382
rs1559720382
SETD2
2 1.000 3 47101476 missense variant T/C snv 0.700 0
dbSNP: rs542652468
rs542652468
ATP1A3
6 0.882 19 41986177 missense variant G/A;T snv 0.700 0