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: rs28935493
rs28935493
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398074 missense variant C/T snv 9.4E-06 0.810 1.000 7 1989 2017