SNTA1, syntrophin alpha 1, 6640

N. diseases: 45; N. variants: 6
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
dbSNP: rs141588480
rs141588480 		20 33426108 intron variant T/- del 1.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2019 2019
dbSNP: rs184024562
rs184024562 		20 33433456 intron variant G/A;T snv 4.2E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs121434500
rs121434500 		0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs121434500
rs121434500 		0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121434500
rs121434500 		0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0039070
Disease: Syncope
Syncope 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121434500
rs121434500 		0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs139467962
rs139467962 		1.000 0.120 20 33412702 missense variant G/A snv 1.6E-05 4.9E-05
CUI: C0039070
Disease: Syncope
Syncope 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs139467962
rs139467962 		1.000 0.120 20 33412702 missense variant G/A snv 1.6E-05 4.9E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs368660364
rs368660364 		1.000 0.040 20 33408748 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2009 2009