EPHB4, EPH receptor B4, 2050

N. diseases: 157; N. variants: 27
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776410552
rs776410552
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs776410552
rs776410552
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs1159930961
rs1159930961
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT
dbSNP: rs1562969219
rs1562969219
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1562973541
rs1562973541
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1562973614
rs1562973614
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs1562976493
rs1562976493
Entrez Id: 2050;56996
Gene Symbol: EPHB4;SLC12A9
EPHB4;SLC12A9
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs927772349
rs927772349
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs927772349
rs927772349
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1330628156
rs1330628156
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 28687708 2017
dbSNP: rs1417508111
rs1417508111
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 28687708 2017
dbSNP: rs1562969219
rs1562969219
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		T 0.700 GeneticVariation CLINVAR Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 28687708 2017
dbSNP: rs377702127
rs377702127
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		C 0.700 GeneticVariation CLINVAR Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 28687708 2017
dbSNP: rs61735971
rs61735971
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 28687708 2017
dbSNP: rs745584371
rs745584371
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 28687708 2017
dbSNP: rs764827256
rs764827256
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 28687708 2017
dbSNP: rs769965440
rs769965440
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 28687708 2017
dbSNP: rs776305185
rs776305185
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 28687708 2017
dbSNP: rs776410552
rs776410552
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		C 0.800 GeneticVariation CLINVAR EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 28730721 2017
dbSNP: rs1330628156
rs1330628156
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 28730721 2017
dbSNP: rs1417508111
rs1417508111
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 28730721 2017
dbSNP: rs61735971
rs61735971
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 28730721 2017
dbSNP: rs745584371
rs745584371
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 28730721 2017
dbSNP: rs764827256
rs764827256
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 28730721 2017
dbSNP: rs769965440
rs769965440
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 GeneticVariation UNIPROT EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 28730721 2017