rs397508791
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397508791(A;A) |
Make rs397508791(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117535412 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs397508791 |
dbSNP (classic) | rs397508791 |
ClinGen | rs397508791 |
ebi | rs397508791 |
HLI | rs397508791 |
Exac | rs397508791 |
Gnomad | rs397508791 |
Varsome | rs397508791 |
LitVar | rs397508791 |
Map | rs397508791 |
PheGenI | rs397508791 |
Biobank | rs397508791 |
1000 genomes | rs397508791 |
hgdp | rs397508791 |
ensembl | rs397508791 |
geneview | rs397508791 |
scholar | rs397508791 |
rs397508791 | |
pharmgkb | rs397508791 |
gwascentral | rs397508791 |
openSNP | rs397508791 |
23andMe | rs397508791 |
SNPshot | rs397508791 |
SNPdbe | rs397508791 |
MSV3d | rs397508791 |
GWAS Ctlg | rs397508791 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397508791(A;A) rs397508791(C;C) |
Alt | rs397508791(A;A) rs397508791(C;C) |
Reference | Rs397508791(G;G) |
Significance | Pathogenic |
Disease | Cystic fibrosis Hereditary pancreatitis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis Hereditary pancreatitis |
Reversed | 0 |
HGVS | NC_000007.13:g.117175466G>A; NC_000007.13:g.117175466G>C |
CLNSRC | ClinVar |
CLNACC | RCV000047246.3, RCV000347077.1, RCV000047247.3, |