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rs460184

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs460184(A;G)
Make rs460184(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position196747207
GeneCFH
is asnp
is mentioned by
dbSNPrs460184
ebirs460184
HLIrs460184
Exacrs460184
Varsomers460184
Maprs460184
PheGenIrs460184
hapmaprs460184
1000 genomesrs460184
hgdprs460184
ensemblrs460184
gopubmedrs460184
geneviewrs460184
scholarrs460184
googlers460184
pharmgkbrs460184
gwascentralrs460184
openSNPrs460184
23andMers460184
23andMe allrs460184
SNP Nexus

SNPshotrs460184
SNPdbers460184
MSV3drs460184
GWAS Ctlgrs460184
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs460184(G;G)
Alt rs460184(G;G)
Reference rs460184(A;A)
Significance Pathogenic
Disease Atypical hemolytic-uremic syndrome 1
Variation info
Gene CFH
CLNDBN Atypical hemolytic-uremic syndrome 1
Reversed 1
HGVS NC_000001.10:g.196716337T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020180.1,


[PMID 16470555] De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.


[PMID 17076561OA-icon.png] Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.