Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121907957
rs121907957
HEXA
1.000 0.120 15 72353129 missense variant C/T snv 7.0E-06
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		0.800 1.000 28 1988 2016