CCNH, cyclin H, 902

N. diseases: 83; N. variants: 37
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853217
rs137853217
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.800 GeneticVariation UNIPROT RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs137853217
rs137853217
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.800 GeneticVariation UNIPROT Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 14639529 2003
dbSNP: rs137853217
rs137853217
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1561333645
rs1561333645
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		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: rs2230641
rs2230641
Entrez Id: 902
Gene Symbol: CCNH
CCNH
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs1554050230
rs1554050230
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		T 0.700 CausalMutation CLINVAR A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. 26499346 2016
dbSNP: rs35148638
rs35148638
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C0600139
Disease:
Prostate carcinoma 		C 0.700 GeneticVariation GWASCAT In a multistage, case-only genome-wide association study of 12,518 prostate cancer cases, we identify two loci associated with Gleason score, a pathological measure of disease aggressiveness: rs35148638 at 5q14.3 (RASA1, P=6.49 × 10(-9)) and rs78943174 at 3q26.31 (NAALADL2, P=4.18 × 10(-8)). 25939597 2015
dbSNP: rs1204340475
rs1204340475
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		T 0.700 CausalMutation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs145752649
rs145752649
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.700 GeneticVariation UNIPROT RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs1554050230
rs1554050230
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		T 0.700 CausalMutation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs1554051094
rs1554051094
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		A 0.700 GeneticVariation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs1561316757
rs1561316757
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		C 0.700 GeneticVariation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs1561333645
rs1561333645
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		T 0.700 CausalMutation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs373098580
rs373098580
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.700 GeneticVariation UNIPROT RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs983011713
rs983011713
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		A 0.700 CausalMutation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs983011713
rs983011713
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		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
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		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: rs145752649
rs145752649
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.700 GeneticVariation UNIPROT Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 14639529 2003
dbSNP: rs373098580
rs373098580
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.700 GeneticVariation UNIPROT Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 14639529 2003
dbSNP: rs1060503438
rs1060503438
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503439
rs1060503439
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1060503440
rs1060503440
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503441
rs1060503441
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1347210621
rs1347210621
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C1842180
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs137853214
rs137853214
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C3838465
Disease:
BASAL CELL CARCINOMA, SOMATIC 		T 0.700 CausalMutation CLINVAR