Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561333645
rs1561333645
CCNH ; RASA1
T 0.700 CausalMutation CLINVAR RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis. 29120072

2018
dbSNP: rs1554050230
rs1554050230
CCNH ; RASA1
T 0.700 CausalMutation CLINVAR A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. 26499346

2016
dbSNP: rs1204340475
rs1204340475
CCNH ; RASA1
T 0.700 CausalMutation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909

2013
dbSNP: rs1554050230
rs1554050230
CCNH ; RASA1
T 0.700 CausalMutation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909

2013
dbSNP: rs1554051094
rs1554051094
CCNH ; RASA1
A 0.700 GeneticVariation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909

2013
dbSNP: rs1561316757
rs1561316757
CCNH ; RASA1
C 0.700 GeneticVariation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909

2013
dbSNP: rs1561333645
rs1561333645
CCNH ; RASA1
T 0.700 CausalMutation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909

2013
dbSNP: rs983011713
rs983011713
CCNH ; RASA1
A 0.700 CausalMutation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909

2013
dbSNP: rs983011713
rs983011713
CCNH ; RASA1
A 0.700 CausalMutation CLINVAR CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy. 23164092

2012
dbSNP: rs983011713
rs983011713
CCNH ; RASA1
A 0.700 CausalMutation CLINVAR Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 18446851

2008
dbSNP: rs1060503438
rs1060503438
CCNH ; RASA1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503439
rs1060503439
CCNH ; RASA1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060503440
rs1060503440
CCNH ; RASA1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503441
rs1060503441
CCNH ; RASA1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1347210621
rs1347210621
CCNH ; RASA1
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1384480619
rs1384480619
RASA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554044823
rs1554044823
CCNH ; RASA1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554045819
rs1554045819
CCNH ; RASA1
CG 0.700 CausalMutation CLINVAR

dbSNP: rs1554049825
rs1554049825
CCNH ; RASA1
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1554050584
rs1554050584
CCNH ; RASA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1561331089
rs1561331089
CCNH ; RASA1
G 0.700 CausalMutation CLINVAR

dbSNP: rs201249348
rs201249348
CCNH ; RASA1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs747745016
rs747745016
CCNH ; RASA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs797044451
rs797044451
RASA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs878854569
rs878854569
CCNH ; RASA1
CT 0.700 CausalMutation CLINVAR