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 0.710 1.000 1 1997 1997
dbSNP: rs10805890
rs10805890
HEXB
4 0.851 0.120 5 74697056 missense variant A/G snv 0.16 0.13 0.010 < 0.001 1 1996 1996