rs1057519022, GM2A

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.
Tay-Sachs Disease, AB Variant
CUI: C0268275
Disease: Tay-Sachs Disease, AB Variant
7 1.000 0.120 5 151266729 splice acceptor variant A/T snv 0.700 0