rs36210737
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | cystic fibrosis carrier |
| (T;T) | 0 | common in clinvar |
| Make rs36210737(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117611743 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36210737 |
| dbSNP (classic) | rs36210737 |
| ClinGen | rs36210737 |
| ebi | rs36210737 |
| HLI | rs36210737 |
| Exac | rs36210737 |
| Gnomad | rs36210737 |
| Varsome | rs36210737 |
| LitVar | rs36210737 |
| Map | rs36210737 |
| PheGenI | rs36210737 |
| Biobank | rs36210737 |
| 1000 genomes | rs36210737 |
| hgdp | rs36210737 |
| ensembl | rs36210737 |
| geneview | rs36210737 |
| scholar | rs36210737 |
| rs36210737 | |
| pharmgkb | rs36210737 |
| gwascentral | rs36210737 |
| openSNP | rs36210737 |
| 23andMe | rs36210737 |
| SNPshot | rs36210737 |
| SNPdbe | rs36210737 |
| MSV3d | rs36210737 |
| GWAS Ctlg | rs36210737 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3302T>G, p.Met1101Arg
named i5011864 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs36210737(A;A) rs36210737(G;G) |
| Alt | rs36210737(A;A) rs36210737(G;G) |
| Reference | Rs36210737(T;T) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis not provided Hereditary pancreatitis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not provided Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117251797T>A; NC_000007.13:g.117251797T>G |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000032712.6, RCV000078996.3, RCV000333678.1, RCV000046860.2, |
