rs397508805
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AACTT) | 3 | carrier of a cystic fibrosis allele |
(AACTT;AACTT) | 0 | common in clinvar |
Make rs397508805(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117536663 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs397508805 |
dbSNP (classic) | rs397508805 |
ClinGen | rs397508805 |
ebi | rs397508805 |
HLI | rs397508805 |
Exac | rs397508805 |
Gnomad | rs397508805 |
Varsome | rs397508805 |
LitVar | rs397508805 |
Map | rs397508805 |
PheGenI | rs397508805 |
Biobank | rs397508805 |
1000 genomes | rs397508805 |
hgdp | rs397508805 |
ensembl | rs397508805 |
geneview | rs397508805 |
scholar | rs397508805 |
rs397508805 | |
pharmgkb | rs397508805 |
gwascentral | rs397508805 |
openSNP | rs397508805 |
23andMe | rs397508805 |
SNPshot | rs397508805 |
SNPdbe | rs397508805 |
MSV3d | rs397508805 |
GWAS Ctlg | rs397508805 |
Merged from | Rs397508806 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs397508805(-;-) rs397508805(CTTAA;CTTAA) |
Alt | rs397508805(-;-) rs397508805(CTTAA;CTTAA) |
Reference | Rs397508805(AACTT;AACTT) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117176719_117176723delCTTAA |
CLNSRC | CFTR2 |
CLNACC | RCV000047272.5, |