rs397508451
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 3 | carrier of a cystic fibrosis allele |
(A;A) | 0 | common in clinvar |
Make rs397508451(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117603770 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs397508451 |
dbSNP (classic) | rs397508451 |
ClinGen | rs397508451 |
ebi | rs397508451 |
HLI | rs397508451 |
Exac | rs397508451 |
Gnomad | rs397508451 |
Varsome | rs397508451 |
LitVar | rs397508451 |
Map | rs397508451 |
PheGenI | rs397508451 |
Biobank | rs397508451 |
1000 genomes | rs397508451 |
hgdp | rs397508451 |
ensembl | rs397508451 |
geneview | rs397508451 |
scholar | rs397508451 |
rs397508451 | |
pharmgkb | rs397508451 |
gwascentral | rs397508451 |
openSNP | rs397508451 |
23andMe | rs397508451 |
SNPshot | rs397508451 |
SNPdbe | rs397508451 |
MSV3d | rs397508451 |
GWAS Ctlg | rs397508451 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs397508451(-;-) |
Alt | rs397508451(-;-) |
Reference | Rs397508451(A;A) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117243824delA |
CLNSRC | CFTR2 |
CLNACC | RCV000046710.3, |