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: rs1057521137
rs1057521137
HEXA
1.000 0.120 15 72350575 missense variant C/T snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		0.700 1.000 22 1988 2016