rs1554034447, 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 74685377 frameshift variant G/- delins 0.700 0