rs397508137
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | CF carrier mutation, but of varying clinical consequence |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | carrier of a cystic fibrosis allele |
| Make rs397508137(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117540231 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508137 |
| dbSNP (classic) | rs397508137 |
| ClinGen | rs397508137 |
| ebi | rs397508137 |
| HLI | rs397508137 |
| Exac | rs397508137 |
| Gnomad | rs397508137 |
| Varsome | rs397508137 |
| LitVar | rs397508137 |
| Map | rs397508137 |
| PheGenI | rs397508137 |
| Biobank | rs397508137 |
| 1000 genomes | rs397508137 |
| hgdp | rs397508137 |
| ensembl | rs397508137 |
| geneview | rs397508137 |
| scholar | rs397508137 |
| rs397508137 | |
| pharmgkb | rs397508137 |
| gwascentral | rs397508137 |
| openSNP | rs397508137 |
| 23andMe | rs397508137 |
| SNPshot | rs397508137 |
| SNPdbe | rs397508137 |
| MSV3d | rs397508137 |
| GWAS Ctlg | rs397508137 |
| Max Magnitude | 3 |
aka both c.1001G>T and c.1001G>A; the first is CF-causing, the second is of varying clinical consequence (~27% of wild type CFTR-activity).[PMID 29805046
]
| ClinVar | |
|---|---|
| Risk | rs397508137(A;A) rs397508137(T;T) |
| Alt | rs397508137(A;A) rs397508137(T;T) |
| Reference | Rs397508137(G;G) |
| Significance | Untested |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117180285G>A; NC_000007.13:g.117180285G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000046192.3, RCV000046193.2, |
