rs727504486
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (I;I) | 0 | common genotype |
| (TT;TT) | 0 | common in clinvar |
| Make rs727504486(-;-) |
| Make rs727504486(-;TT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 7 |
| Position | 117548634 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727504486 |
| dbSNP (classic) | rs727504486 |
| ClinGen | rs727504486 |
| ebi | rs727504486 |
| HLI | rs727504486 |
| Exac | rs727504486 |
| Gnomad | rs727504486 |
| Varsome | rs727504486 |
| LitVar | rs727504486 |
| Map | rs727504486 |
| PheGenI | rs727504486 |
| Biobank | rs727504486 |
| 1000 genomes | rs727504486 |
| hgdp | rs727504486 |
| ensembl | rs727504486 |
| geneview | rs727504486 |
| scholar | rs727504486 |
| rs727504486 | |
| pharmgkb | rs727504486 |
| gwascentral | rs727504486 |
| openSNP | rs727504486 |
| 23andMe | rs727504486 |
| SNPshot | rs727504486 |
| SNPdbe | rs727504486 |
| MSV3d | rs727504486 |
| GWAS Ctlg | rs727504486 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs727504486(TT;TT) |
| Significance | Pathogenic |
| Disease | not specified Cystic fibrosis Congenital bilateral absence of the vas deferens |
| Variation | info |
| Gene | CFTR |
| CLNDBN | not specified Cystic fibrosis Congenital bilateral absence of the vas deferens |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117188688_117188689delTT |
| CLNSRC | |
| CLNACC | RCV000155619.2, RCV000173692.1, RCV000173693.1, |
