rs460897
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (G;G) | 0 | common in complete genomics |
| Make rs460897(A;A) |
| Make rs460897(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 196747189 |
| Gene | CFH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs460897 |
| dbSNP (classic) | rs460897 |
| ClinGen | rs460897 |
| ebi | rs460897 |
| HLI | rs460897 |
| Exac | rs460897 |
| Gnomad | rs460897 |
| Varsome | rs460897 |
| LitVar | rs460897 |
| Map | rs460897 |
| PheGenI | rs460897 |
| Biobank | rs460897 |
| 1000 genomes | rs460897 |
| hgdp | rs460897 |
| ensembl | rs460897 |
| geneview | rs460897 |
| scholar | rs460897 |
| rs460897 | |
| pharmgkb | rs460897 |
| gwascentral | rs460897 |
| openSNP | rs460897 |
| 23andMe | rs460897 |
| SNPshot | rs460897 |
| SNPdbe | rs460897 |
| MSV3d | rs460897 |
| GWAS Ctlg | rs460897 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| 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 | RCV000018011.7, |
[PMID 9811382] Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H.
[PMID 10577907
] Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.
[PMID 10762557] 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 17076561] Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
