EPHB4, EPH receptor B4, 2050

N. diseases: 157; N. variants: 27
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: rs776410552
rs776410552 		1.000 7 100806499 missense variant T/C snv 4.0E-06
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.800 1.000 1 2017 2017
dbSNP: rs314308
rs314308 		1.000 0.080 7 100823256 intron variant C/G;T snv
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs314311
rs314311 		7 100824859 non coding transcript exon variant T/G snv 0.17
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs314349
rs314349 		7 100804203 intron variant T/C;G snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018