TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
Disease: Vascular anomaly ×
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: rs638203
rs638203 		9 27203136 intron variant A/G;T snv 0.47; 1.2E-05
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs639225
rs639225 		9 27202872 synonymous variant A/G snv 0.47 0.46
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs80338908
rs80338908 		0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019