rs368505753
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of a cystic fibrosis allele |
| Make rs368505753(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117509069 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368505753 |
| dbSNP (classic) | rs368505753 |
| ClinGen | rs368505753 |
| ebi | rs368505753 |
| HLI | rs368505753 |
| Exac | rs368505753 |
| Gnomad | rs368505753 |
| Varsome | rs368505753 |
| LitVar | rs368505753 |
| Map | rs368505753 |
| PheGenI | rs368505753 |
| Biobank | rs368505753 |
| 1000 genomes | rs368505753 |
| hgdp | rs368505753 |
| ensembl | rs368505753 |
| geneview | rs368505753 |
| scholar | rs368505753 |
| rs368505753 | |
| pharmgkb | rs368505753 |
| gwascentral | rs368505753 |
| openSNP | rs368505753 |
| 23andMe | rs368505753 |
| SNPshot | rs368505753 |
| SNPdbe | rs368505753 |
| MSV3d | rs368505753 |
| GWAS Ctlg | rs368505753 |
| Max Magnitude | 3 |
Cystic fibrosis; c.200C>T, Pro67Leu or P67L
named i5010743 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs368505753(T;T) |
| Alt | rs368505753(T;T) |
| Reference | Rs368505753(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis Hereditary pancreatitis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117149123C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000056357.5, RCV000274965.1, |
