rs113993958
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | Cystic Fibrosis (D110H); milder form |
| (C;G) | 3 | carrier for milder form of cystic fibrosis |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117530953 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113993958 |
| dbSNP (classic) | rs113993958 |
| ClinGen | rs113993958 |
| ebi | rs113993958 |
| HLI | rs113993958 |
| Exac | rs113993958 |
| Gnomad | rs113993958 |
| Varsome | rs113993958 |
| LitVar | rs113993958 |
| Map | rs113993958 |
| PheGenI | rs113993958 |
| Biobank | rs113993958 |
| 1000 genomes | rs113993958 |
| hgdp | rs113993958 |
| ensembl | rs113993958 |
| geneview | rs113993958 |
| scholar | rs113993958 |
| rs113993958 | |
| pharmgkb | rs113993958 |
| gwascentral | rs113993958 |
| openSNP | rs113993958 |
| 23andMe | rs113993958 |
| SNPshot | rs113993958 |
| SNPdbe | rs113993958 |
| MSV3d | rs113993958 |
| GWAS Ctlg | rs113993958 |
| Max Magnitude | 4 |
rs113993958, also known as c.328G>C, is a SNP in the CFTR gene potentially leading to a mild form of cystic fibrosis known as Asp110His or D110H (OMIM 602041.0004). The common form is rs113993958(G), whereas the form leading (when present in two copies) to cystic fibrosis is rs113993958(C).
named i5006048 by 23andMe, although their SNPs i5010823, i5010825 and i5010826 are also at the same nucleotide position
| ClinVar | |
|---|---|
| Risk | Rs113993958(C;C) rs113993958(T;T) |
| Alt | Rs113993958(C;C) rs113993958(T;T) |
| Reference | Rs113993958(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis not provided |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117171007G>C; NC_000007.13:g.117171007G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007527.6, RCV000058930.1, RCV000046852.2, |
