rs1800123
From SNPedia
Cystic Fibrosis related |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | cystic fibrosis carrier |
Make rs1800123(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117627712 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs1800123 |
dbSNP (classic) | rs1800123 |
ClinGen | rs1800123 |
ebi | rs1800123 |
HLI | rs1800123 |
Exac | rs1800123 |
Gnomad | rs1800123 |
Varsome | rs1800123 |
LitVar | rs1800123 |
Map | rs1800123 |
PheGenI | rs1800123 |
Biobank | rs1800123 |
1000 genomes | rs1800123 |
hgdp | rs1800123 |
ensembl | rs1800123 |
geneview | rs1800123 |
scholar | rs1800123 |
rs1800123 | |
pharmgkb | rs1800123 |
gwascentral | rs1800123 |
openSNP | rs1800123 |
23andMe | rs1800123 |
SNPshot | rs1800123 |
SNPdbe | rs1800123 |
MSV3d | rs1800123 |
GWAS Ctlg | rs1800123 |
GMAF | 0.0004591 |
Max Magnitude | 3 |
Cystic fibrosis; c.3659C>T, p,Thr1220Ile
named i5011969 and i3002449 by 23andMe
ClinVar | |
---|---|
Risk | rs1800123(T;T) |
Alt | rs1800123(T;T) |
Reference | Rs1800123(C;C) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117267766C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007635.2, |
[PMID 18716917] A novel computational and structural analysis of nsSNPs in CFTR gene.