SNTA1, syntrophin alpha 1, 6640

N. diseases: 45; N. variants: 6
Disease: Long Qt Syndrome 12 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56157422
rs56157422
Entrez Id: 6640
Gene Symbol: SNTA1
SNTA1
CUI: C2751830
Disease:
Long Qt Syndrome 12 		0.800 GeneticVariation UNIPROT Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. 18591664 2008
dbSNP: rs56157422
rs56157422
Entrez Id: 6640
Gene Symbol: SNTA1
SNTA1
CUI: C2751830
Disease:
Long Qt Syndrome 12 		0.800 GeneticVariation UNIPROT alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. 19684871 2008
dbSNP: rs56157422
rs56157422
Entrez Id: 6640
Gene Symbol: SNTA1
SNTA1
CUI: C2751830
Disease:
Long Qt Syndrome 12 		C 0.800 CausalMutation CLINVAR