rs373979283, HEXB

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Sandhoff Disease
CUI: C0036161
Disease: Sandhoff Disease
48 1.000 0.120 5 74713530 missense variant T/G snv 2.0E-05 7.0E-06 0.700 1.000 3 2006 2013