rs776410552
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
C
0.800
GeneticVariation
CLINVAR
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.
28730721
2017
rs1057519263
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
LYMPHATIC MALFORMATION 7
0.800
GeneticVariation
UNIPROT
rs1057519263
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
LYMPHATIC MALFORMATION 7
T
0.800
CausalMutation
CLINVAR
rs1057519264
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
LYMPHATIC MALFORMATION 7
0.800
GeneticVariation
UNIPROT
rs1057519264
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
LYMPHATIC MALFORMATION 7
C
0.800
CausalMutation
CLINVAR
rs776410552
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
C
0.800
CausalMutation
CLINVAR
rs776410552
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.800
GeneticVariation
UNIPROT
rs1330628156
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
30578106
2019
rs1417508111
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
30578106
2019
rs61735971
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
30578106
2019
rs745584371
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
30578106
2019
rs764827256
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
30578106
2019
rs769965440
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
30578106
2019
rs776305185
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
30578106
2019
rs1330628156
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
29444212
2018
rs1417508111
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
29444212
2018
rs314311
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
Serum total cholesterol measurement
T
0.700
GeneticVariation
GWASCAT
A large electronic-health-record-based genome-wide study of serum lipids.
29507422
2018
rs314349
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
Hair Color
0.700
GeneticVariation
GWASCAT
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
30531825
2018
rs61735971
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
29444212
2018
rs745584371
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
29444212
2018
rs764827256
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
29444212
2018
rs769965440
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
29444212
2018
rs776305185
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
29444212
2018
rs1330628156
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
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
rs1330628156
×
Entrez Id:
2050
Gene Symbol:
EPHB4
EPHB4
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
0.700
GeneticVariation
UNIPROT
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.
28730721
2017