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: rs121907954
rs121907954
HEXA
6 0.807 0.120 15 72350518 missense variant C/G;T snv 1.3E-04 0.010 1.000 1 2004 2004
dbSNP: rs121907981
rs121907981
HEXA
3 0.882 0.120 15 72345550 missense variant C/G snv 1.2E-05 7.0E-06 0.010 1.000 1 1998 1998