rs121909045
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | cystic fibrosis carrier |
Make rs121909045(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117480113 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs121909045 |
dbSNP (classic) | rs121909045 |
ClinGen | rs121909045 |
ebi | rs121909045 |
HLI | rs121909045 |
Exac | rs121909045 |
Gnomad | rs121909045 |
Varsome | rs121909045 |
LitVar | rs121909045 |
Map | rs121909045 |
PheGenI | rs121909045 |
Biobank | rs121909045 |
1000 genomes | rs121909045 |
hgdp | rs121909045 |
ensembl | rs121909045 |
geneview | rs121909045 |
scholar | rs121909045 |
rs121909045 | |
pharmgkb | rs121909045 |
gwascentral | rs121909045 |
openSNP | rs121909045 |
23andMe | rs121909045 |
SNPshot | rs121909045 |
SNPdbe | rs121909045 |
MSV3d | rs121909045 |
GWAS Ctlg | rs121909045 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121909045(C;C) rs121909045(T;T) |
Alt | rs121909045(C;C) rs121909045(T;T) |
Reference | Rs121909045(G;G) |
Significance | Pathogenic |
Disease | Cystic fibrosis Hereditary pancreatitis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis Hereditary pancreatitis |
Reversed | 0 |
HGVS | NC_000007.13:g.117120167G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007657.5, RCV000278439.1, |