rs397508212
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs397508212(-;-) |
Make rs397508212(-;TC) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117559540 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs397508212 |
dbSNP (classic) | rs397508212 |
ClinGen | rs397508212 |
ebi | rs397508212 |
HLI | rs397508212 |
Exac | rs397508212 |
Gnomad | rs397508212 |
Varsome | rs397508212 |
LitVar | rs397508212 |
Map | rs397508212 |
PheGenI | rs397508212 |
Biobank | rs397508212 |
1000 genomes | rs397508212 |
hgdp | rs397508212 |
ensembl | rs397508212 |
geneview | rs397508212 |
scholar | rs397508212 |
rs397508212 | |
pharmgkb | rs397508212 |
gwascentral | rs397508212 |
openSNP | rs397508212 |
23andMe | rs397508212 |
SNPshot | rs397508212 |
SNPdbe | rs397508212 |
MSV3d | rs397508212 |
GWAS Ctlg | rs397508212 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397508212(-;-) |
Alt | rs397508212(-;-) |
Reference | Rs397508212(TC;TC) |
Significance | Untested |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117199594_117199595delTC |
CLNSRC | ClinVar |
CLNACC | RCV000046310.2, |