rs397508295
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TAGA) | 3 | carrier of a cystic fibrosis allele |
(GATA;GATA) | 0 | common in clinvar |
(TAGA;TAGA) | 0 | common in clinvar |
Make rs397508295(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117509043 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs397508295 |
dbSNP (classic) | rs397508295 |
ClinGen | rs397508295 |
ebi | rs397508295 |
HLI | rs397508295 |
Exac | rs397508295 |
Gnomad | rs397508295 |
Varsome | rs397508295 |
LitVar | rs397508295 |
Map | rs397508295 |
PheGenI | rs397508295 |
Biobank | rs397508295 |
1000 genomes | rs397508295 |
hgdp | rs397508295 |
ensembl | rs397508295 |
geneview | rs397508295 |
scholar | rs397508295 |
rs397508295 | |
pharmgkb | rs397508295 |
gwascentral | rs397508295 |
openSNP | rs397508295 |
23andMe | rs397508295 |
SNPshot | rs397508295 |
SNPdbe | rs397508295 |
MSV3d | rs397508295 |
GWAS Ctlg | rs397508295 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs397508295(-;-) |
Alt | rs397508295(-;-) |
Reference | Rs397508295(GATA;GATA) |
Significance | Untested |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117149097_117149100delTAGA |
CLNSRC | ClinVar |
CLNACC | RCV000046459.2, |