rs7144
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs7144(C;C) |
| Make rs7144(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 207794374 |
| Gene | CD46 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7144 |
| dbSNP (classic) | rs7144 |
| ClinGen | rs7144 |
| ebi | rs7144 |
| HLI | rs7144 |
| Exac | rs7144 |
| Gnomad | rs7144 |
| Varsome | rs7144 |
| LitVar | rs7144 |
| Map | rs7144 |
| PheGenI | rs7144 |
| Biobank | rs7144 |
| 1000 genomes | rs7144 |
| hgdp | rs7144 |
| ensembl | rs7144 |
| geneview | rs7144 |
| scholar | rs7144 |
| rs7144 | |
| pharmgkb | rs7144 |
| gwascentral | rs7144 |
| openSNP | rs7144 |
| 23andMe | rs7144 |
| SNPshot | rs7144 |
| SNPdbe | rs7144 |
| MSV3d | rs7144 |
| GWAS Ctlg | rs7144 |
| GMAF | 0.3563 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 22357652
] CD46 measles receptor polymorphisms influence receptor protein expression and primary measles vaccine responses in naive Australian children
[PMID 18483746] Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.
[PMID 19861685] Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
| ClinVar | |
|---|---|
| Risk | rs7144(C;C) |
| Alt | rs7144(C;C) |
| Reference | Rs7144(T;T) |
| Significance | Non-pathogenic |
| Disease | Atypical hemolytic uremic syndrome |
| Variation | info |
| Gene | CD46 |
| CLNDBN | Atypical hemolytic uremic syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.207967719T>C |
| CLNSRC | |
| CLNACC | RCV000385547.1, |
