rs77646904
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier for a cystic fibrosis allele |
| (C;C) | 0 | common in complete genomics |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Cystic Fibrosis carrier |
| Make rs77646904(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117559629 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77646904 |
| dbSNP (classic) | rs77646904 |
| ClinGen | rs77646904 |
| ebi | rs77646904 |
| HLI | rs77646904 |
| Exac | rs77646904 |
| Gnomad | rs77646904 |
| Varsome | rs77646904 |
| LitVar | rs77646904 |
| Map | rs77646904 |
| PheGenI | rs77646904 |
| Biobank | rs77646904 |
| 1000 genomes | rs77646904 |
| hgdp | rs77646904 |
| ensembl | rs77646904 |
| geneview | rs77646904 |
| scholar | rs77646904 |
| rs77646904 | |
| pharmgkb | rs77646904 |
| gwascentral | rs77646904 |
| openSNP | rs77646904 |
| 23andMe | rs77646904 |
| SNPshot | rs77646904 |
| SNPdbe | rs77646904 |
| MSV3d | rs77646904 |
| GWAS Ctlg | rs77646904 |
| GMAF | 0.0009183 |
| Max Magnitude | 3 |
Cystic fibrosis; c.1558G>T, p.Val520Phe
Note that this SNP is defined on the minus strand, so the G>T change reported in the literature is actually a C>A change for this SNP.
named i4000299, i5006075, i5011279 and i5011280 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs77646904(A;A) Rs77646904(G;G) rs77646904(T;T) |
| Alt | rs77646904(A;A) Rs77646904(G;G) rs77646904(T;T) |
| Reference | Rs77646904(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis not specified |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not specified |
| Reversed | 1 |
| HGVS | NC_000007.13:g.117199683G>A; NC_000007.13:g.117199683G>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000046339.3, RCV000078979.5, RCV000007570.5, |
