TPM1, tropomyosin 1, 7168

N. diseases: 117; N. variants: 62
Disease: Pulmonary Atresia with Intact Ventricular Septum ×
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: rs1114167355
rs1114167355 		1.000 0.080 15 63059576 missense variant A/G snv
CUI: C0344975
Disease: Pulmonary Atresia with Intact Ventricular Septum
Pulmonary Atresia with Intact Ventricular Septum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017