rs761117459, 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 74689361 stop gained G/A;C snv 8.0E-06; 1.2E-05 0.700 1.000 1 2016 2016