rs460184

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs460184(A;G)

Make rs460184(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

196747207

Gene

CFH

is a	snp
is	mentioned by
dbSNP	rs460184
dbSNP (classic)	rs460184
ClinGen	rs460184
ebi	rs460184
HLI	rs460184
Exac	rs460184
Gnomad	rs460184
Varsome	rs460184
LitVar	rs460184
Map	rs460184
PheGenI	rs460184
Biobank	rs460184
1000 genomes	rs460184
hgdp	rs460184
ensembl	rs460184
geneview	rs460184
scholar	rs460184
google	rs460184
pharmgkb	rs460184
gwascentral	rs460184
openSNP	rs460184
23andMe	rs460184
SNPshot	rs460184
SNPdbe	rs460184
MSV3d	rs460184
GWAS Ctlg	rs460184

Max Magnitude

0

?

(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 17076561 ] Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.