rs121908782
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACCA;ACCA) | 0 | common in clinvar |
(CAAC;CAAC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs121908782(-;-) |
Make rs121908782(-;ACCA) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117627588 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs121908782 |
dbSNP (classic) | rs121908782 |
ClinGen | rs121908782 |
ebi | rs121908782 |
HLI | rs121908782 |
Exac | rs121908782 |
Gnomad | rs121908782 |
Varsome | rs121908782 |
LitVar | rs121908782 |
Map | rs121908782 |
PheGenI | rs121908782 |
Biobank | rs121908782 |
1000 genomes | rs121908782 |
hgdp | rs121908782 |
ensembl | rs121908782 |
geneview | rs121908782 |
scholar | rs121908782 |
rs121908782 | |
pharmgkb | rs121908782 |
gwascentral | rs121908782 |
openSNP | rs121908782 |
23andMe | rs121908782 |
SNPshot | rs121908782 |
SNPdbe | rs121908782 |
MSV3d | rs121908782 |
GWAS Ctlg | rs121908782 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908782(-;-) rs121908782(CCAA;CCAA) |
Alt | rs121908782(-;-) rs121908782(CCAA;CCAA) |
Reference | Rs121908782(ACCA;ACCA) |
Significance | Probable-Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117267643_117267646delCCAA |
CLNSRC | ClinVar |
CLNACC | RCV000409738.2, |
[PMID 7517264] Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).