rs121907955, HEXA

N. diseases: 2
Source: CLINVAR ×
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.
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
103 0.925 0.120 15 72345461 missense variant C/A;T snv 4.0E-06 0.800 1.000 9 1988 2016
Juvenile GM 2 gangliosidosis
CUI: C0268276
Disease: Juvenile GM 2 gangliosidosis
2 0.925 0.120 15 72345461 missense variant C/A;T snv 4.0E-06 0.700 0