HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Cherry red spot of the macula ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773446161
rs773446161
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C2216370
Disease:
Cherry red spot of the macula 		A 0.700 CausalMutation CLINVAR Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 9150157 1997