rs112735431
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common genotype |
| Make rs112735431(A;A) |
| Make rs112735431(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 80385145 |
| Gene | LOC100294362, RNF213 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs112735431 |
| dbSNP (classic) | rs112735431 |
| ClinGen | rs112735431 |
| ebi | rs112735431 |
| HLI | rs112735431 |
| Exac | rs112735431 |
| Gnomad | rs112735431 |
| Varsome | rs112735431 |
| LitVar | rs112735431 |
| Map | rs112735431 |
| PheGenI | rs112735431 |
| Biobank | rs112735431 |
| 1000 genomes | rs112735431 |
| hgdp | rs112735431 |
| ensembl | rs112735431 |
| geneview | rs112735431 |
| scholar | rs112735431 |
| rs112735431 | |
| pharmgkb | rs112735431 |
| gwascentral | rs112735431 |
| openSNP | rs112735431 |
| 23andMe | rs112735431 |
| SNPshot | rs112735431 |
| SNPdbe | rs112735431 |
| MSV3d | rs112735431 |
| GWAS Ctlg | rs112735431 |
| Max Magnitude | 0 |
[PMID 26590131
] Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals
| ClinVar | |
|---|---|
| Risk | rs112735431(A;A) rs112735431(C;C) |
| Alt | rs112735431(A;A) rs112735431(C;C) |
| Reference | Rs112735431(G;G) |
| Significance | Other |
| Disease | Moyamoya disease 2 |
| Variation | info |
| Gene | LOC100294362 RNF213 |
| CLNDBN | Moyamoya disease 2 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.78358945G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000032902.2, |
[PMID 33096527] Prolonged/delayed cerebral hyperperfusion in adult patients with moyamoya disease with RNF213 gene polymorphism c.14576G>A (rs112735431) after superficial temporal artery-middle cerebral artery anastomosis.
