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: rs772180415
rs772180415
HEXA
1 1.000 0.120 15 72349101 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.800 1.000 3 1988 2016