rs77932196
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | carrier of a cystic fibrosis allele |
| (C;G) | 3 | Cystic Fibrosis carrier |
| (G;G) | 0 | common in clinvar |
| Make rs77932196(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117540270 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77932196 |
| dbSNP (classic) | rs77932196 |
| ClinGen | rs77932196 |
| ebi | rs77932196 |
| HLI | rs77932196 |
| Exac | rs77932196 |
| Gnomad | rs77932196 |
| Varsome | rs77932196 |
| LitVar | rs77932196 |
| Map | rs77932196 |
| PheGenI | rs77932196 |
| Biobank | rs77932196 |
| 1000 genomes | rs77932196 |
| hgdp | rs77932196 |
| ensembl | rs77932196 |
| geneview | rs77932196 |
| scholar | rs77932196 |
| rs77932196 | |
| pharmgkb | rs77932196 |
| gwascentral | rs77932196 |
| openSNP | rs77932196 |
| 23andMe | rs77932196 |
| SNPshot | rs77932196 |
| SNPdbe | rs77932196 |
| MSV3d | rs77932196 |
| GWAS Ctlg | rs77932196 |
| Max Magnitude | 3 |
Cystic fibrosis; c.1040G>C, c.1040G>A, R347P, Arg347Pro, R347P/H
named i4000297 for the G>C change, i5011094 for the G>A change, and i5011095 or the G>T change by 23andMe
| ClinVar | |
|---|---|
| Risk | rs77932196(A;A) rs77932196(C;C) rs77932196(T;T) |
| Alt | rs77932196(A;A) rs77932196(C;C) rs77932196(T;T) |
| Reference | Rs77932196(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.117180324G>A; NC_000007.13:g.117180324G>C; NC_000007.13:g.117180324G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007602.5, RCV000224726.1, RCV000007530.8, RCV000007591.4, |
[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
