rs1800136
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs1800136(A;A) |
| Make rs1800136(A;G) |
| Make rs1800136(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117667054 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800136 |
| dbSNP (classic) | rs1800136 |
| ClinGen | rs1800136 |
| ebi | rs1800136 |
| HLI | rs1800136 |
| Exac | rs1800136 |
| Gnomad | rs1800136 |
| Varsome | rs1800136 |
| LitVar | rs1800136 |
| Map | rs1800136 |
| PheGenI | rs1800136 |
| Biobank | rs1800136 |
| 1000 genomes | rs1800136 |
| hgdp | rs1800136 |
| ensembl | rs1800136 |
| geneview | rs1800136 |
| scholar | rs1800136 |
| rs1800136 | |
| pharmgkb | rs1800136 |
| gwascentral | rs1800136 |
| openSNP | rs1800136 |
| 23andMe | rs1800136 |
| SNPshot | rs1800136 |
| SNPdbe | rs1800136 |
| MSV3d | rs1800136 |
| GWAS Ctlg | rs1800136 |
| GMAF | 0.1781 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19728845] Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene
[PMID 16436643
] A haplotype framework for cystic fibrosis mutations in Iran.
| ClinVar | |
|---|---|
| Risk | rs1800136(A;A) |
| Alt | rs1800136(A;A) |
| Reference | rs1800136(G;G) |
| Significance | Other |
| Disease | not specified Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | not specified Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117307108G>A |
| CLNSRC | HGMD |
| CLNACC | RCV000079007.9, RCV000353586.1, |
