Source: CLINVAR

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: rs201580118
rs201580118
HEXB
1.000 0.120 5 74720617 intron variant G/A;C snv 4.8E-05; 8.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.700 1.000 7 1989 2016