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: rs121907971
rs121907971
HEXA
3 0.882 0.120 15 72350551 missense variant C/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1993 1993