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: rs121907955
rs121907955
HEXA
2 0.925 0.120 15 72345461 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121907956
rs121907956
HEXA
2 0.925 0.120 15 72345476 missense variant C/T snv 5.6E-05 3.5E-05 0.700 0