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: rs372966991
rs372966991
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403845 missense variant C/A;T snv 1.1E-05 0.800 1.000 33 1989 2017