rs1800076
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1800076(A;A) |
| Make rs1800076(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117509093 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800076 |
| dbSNP (classic) | rs1800076 |
| ClinGen | rs1800076 |
| ebi | rs1800076 |
| HLI | rs1800076 |
| Exac | rs1800076 |
| Gnomad | rs1800076 |
| Varsome | rs1800076 |
| LitVar | rs1800076 |
| Map | rs1800076 |
| PheGenI | rs1800076 |
| Biobank | rs1800076 |
| 1000 genomes | rs1800076 |
| hgdp | rs1800076 |
| ensembl | rs1800076 |
| geneview | rs1800076 |
| scholar | rs1800076 |
| rs1800076 | |
| pharmgkb | rs1800076 |
| gwascentral | rs1800076 |
| openSNP | rs1800076 |
| 23andMe | rs1800076 |
| SNPshot | rs1800076 |
| SNPdbe | rs1800076 |
| MSV3d | rs1800076 |
| GWAS Ctlg | rs1800076 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1800076(A;A) rs1800076(T;T) |
| Alt | rs1800076(A;A) rs1800076(T;T) |
| Reference | Rs1800076(G;G) |
| Significance | Other |
| Disease | Cystic fibrosis not specified Hereditary pancreatitis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not specified Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117149147G>A; NC_000007.13:g.117149147G>T |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000029494.2, RCV000116686.4, RCV000119039.2, RCV000046562.2, |
