rs146521846
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | carrier of a cystic fibrosis allele |
Make rs146521846(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117611794 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs146521846 |
dbSNP (classic) | rs146521846 |
ClinGen | rs146521846 |
ebi | rs146521846 |
HLI | rs146521846 |
Exac | rs146521846 |
Gnomad | rs146521846 |
Varsome | rs146521846 |
LitVar | rs146521846 |
Map | rs146521846 |
PheGenI | rs146521846 |
Biobank | rs146521846 |
1000 genomes | rs146521846 |
hgdp | rs146521846 |
ensembl | rs146521846 |
geneview | rs146521846 |
scholar | rs146521846 |
rs146521846 | |
pharmgkb | rs146521846 |
gwascentral | rs146521846 |
openSNP | rs146521846 |
23andMe | rs146521846 |
SNPshot | rs146521846 |
SNPdbe | rs146521846 |
MSV3d | rs146521846 |
GWAS Ctlg | rs146521846 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs146521846(G;G) rs146521846(T;T) |
Alt | rs146521846(G;G) rs146521846(T;T) |
Reference | Rs146521846(C;C) |
Significance | Untested |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117251848C>G; NC_000007.13:g.117251848C>T |
CLNSRC | ClinVar |
CLNACC | RCV000046869.2, RCV000046870.2, |