Source: CLINVAR ×
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: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398467 missense variant C/A;T snv 0.840 1.000 20 1989 2019