PTCRA, pre T cell antigen receptor alpha, 171558

N. diseases: 51; N. variants: 1
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: rs61743125
rs61743125 		0.882 0.080 6 42925677 missense variant G/A snv 2.0E-02 1.9E-02
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs61743125
rs61743125 		0.882 0.080 6 42925677 missense variant G/A snv 2.0E-02 1.9E-02
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs61743125
rs61743125 		0.882 0.080 6 42925677 missense variant G/A snv 2.0E-02 1.9E-02
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018