KDR, kinase insert domain receptor, 3791

N. diseases: 623; N. variants: 23
Disease: HEMANGIOMA, CAPILLARY INFANTILE ×
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: rs121917766
rs121917766 		0.925 0.080 4 55088939 missense variant G/A;C snv 9.2E-05; 4.0E-06
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 3 2002 2008
dbSNP: rs34231037
rs34231037 		0.882 0.160 4 55106779 missense variant A/G snv 2.3E-02 2.3E-02
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0