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: rs1335215379
rs1335215379
RNF216
1 1.000 0.120 7 5652423 missense variant G/A snv 0.700 0
dbSNP: rs148642312
rs148642312
RNF216
1 1.000 0.120 7 5721061 missense variant T/A;C snv 1.2E-04; 4.0E-06 0.700 0
dbSNP: rs1562451985
rs1562451985
RNF216
1 1.000 0.120 7 5741816 splice acceptor variant C/G snv 0.700 0
dbSNP: rs373785974
rs373785974
RNF216
1 1.000 0.120 7 5741113 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs387907368
rs387907368
RNF216
1 1.000 0.120 7 5641285 missense variant G/A snv 0.700 0
dbSNP: rs387907369
rs387907369
RNF216
1 1.000 0.120 7 5715095 stop gained A/T snv 0.700 0
dbSNP: rs387907370
rs387907370
RNF216
1 1.000 0.120 7 5741401 frameshift variant CT/- delins 0.700 0
dbSNP: rs794728000
rs794728000
RNF216
1 1.000 0.120 7 5729454 missense variant C/T snv 0.700 0