TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
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: rs80338908
rs80338908
0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0265950
Disease: Venous malformation
Venous malformation
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.050 1.000 5 1996 2018