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: rs1114167442
rs1114167442
PSMD12
1 1.000 17 67350267 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1114167443
rs1114167443
PSMD12
1 1.000 17 67340940 stop gained A/C snv 0.700 0
dbSNP: rs1114167444
rs1114167444
PSMD12
1 1.000 17 67344782 splice acceptor variant T/C snv 0.700 0
dbSNP: rs895130488
rs895130488
PSMD12
1 1.000 17 67347395 stop gained G/A;T snv 0.700 0