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rs460897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in complete genomics
Make rs460897(A;A)
Make rs460897(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position196747189
GeneCFH
is asnp
is mentioned by
dbSNPrs460897
ebirs460897
HLIrs460897
Exacrs460897
Varsomers460897
Maprs460897
PheGenIrs460897
hapmaprs460897
1000 genomesrs460897
hgdprs460897
ensemblrs460897
gopubmedrs460897
geneviewrs460897
scholarrs460897
googlers460897
pharmgkbrs460897
gwascentralrs460897
openSNPrs460897
23andMers460897
23andMe allrs460897
SNP Nexus

SNPshotrs460897
SNPdbers460897
MSV3drs460897
GWAS Ctlgrs460897
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM134370
DescHEMOLYTIC UREMIC SYNDROME, ATYPICAL
Variant0004
Relatedalso
Neighborrs28929497
Distance48


ClinVar
Risk rs460897(A;A)
Alt rs460897(A;A)
Reference rs460897(G;G)
Significance Other
Disease Atypical hemolytic-uremic syndrome 1
Variation info
Gene CFH
CLNDBN Atypical hemolytic-uremic syndrome 1
Reversed 1
HGVS NC_000001.10:g.196716319C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018011.6,



[PMID 9811382] Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H.


[PMID 10577907OA-icon.png] Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.


[PMID 10762557OA-icon.png] Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.


[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.