SNTA1, syntrophin alpha 1, 6640

N. diseases: 45; N. variants: 6
Disease: Long Qt Syndrome 12 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434500
rs121434500 		0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C2751830
Disease: Long Qt Syndrome 12
Long Qt Syndrome 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2008 2008
dbSNP: rs56157422
rs56157422 		1.000 0.120 20 33412714 missense variant G/A;C;T snv 8.0E-06; 1.7E-03; 4.0E-06
CUI: C2751830
Disease: Long Qt Syndrome 12
Long Qt Syndrome 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2008 2008