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: rs370266293
rs370266293
HEXA
0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		0.800 1.000 22 1988 2016