RNASEH2C, ribonuclease H2 subunit C, 84153

N. diseases: 120; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78635798
rs78635798
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		A 0.800 GeneticVariation CLINVAR p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome. 29150899 2018
dbSNP: rs78635798
rs78635798
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		A 0.800 GeneticVariation CLINVAR Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C. 23322642 2013
dbSNP: rs78635798
rs78635798
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		A 0.800 GeneticVariation CLINVAR Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs78635798
rs78635798
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		A 0.800 GeneticVariation CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
dbSNP: rs78635798
rs78635798
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		A 0.800 GeneticVariation CLINVAR Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
dbSNP: rs78635798
rs78635798
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs78635798
rs78635798
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs4645915
rs4645915
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4645915
rs4645915
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12576766
rs12576766
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs75601653
rs75601653
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs4645933
rs4645933
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs4645933
rs4645933
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs4645933
rs4645933
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
dbSNP: rs4645933
rs4645933
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
dbSNP: rs75328625
rs75328625
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs773527127
rs773527127
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs78464826
rs78464826
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs75328625
rs75328625
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
dbSNP: rs773527127
rs773527127
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
dbSNP: rs78464826
rs78464826
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
dbSNP: rs75328625
rs75328625
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
dbSNP: rs773527127
rs773527127
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
dbSNP: rs78464826
rs78464826
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
dbSNP: rs75146158
rs75146158
Entrez Id: 10524;84153
Gene Symbol: KAT5;RNASEH2C
KAT5;RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		A 0.700 CausalMutation CLINVAR