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rs121907982(A;C)

From SNPedia
Carrier of a Sandhoff disease mutation
Is agenotype
ofrs121907982
GeneHEXB
Chromosome5
Position74,718,921
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a Sandhoff disease mutation

Presumably unaffected in absence of a second HEXB gene mutation; see links via main rs-page.