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: rs121907966
rs121907966
HEXA
9 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.810 1.000 8 1988 2016