rs397508803
From SNPedia
Merged into | rs387906380 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397508803(-;A) |
Make rs397508803(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117536661 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs397508803 |
dbSNP (classic) | rs397508803 |
ClinGen | rs397508803 |
ebi | rs397508803 |
HLI | rs397508803 |
Exac | rs397508803 |
Gnomad | rs397508803 |
Varsome | rs397508803 |
LitVar | rs397508803 |
Map | rs397508803 |
PheGenI | rs397508803 |
Biobank | rs397508803 |
1000 genomes | rs397508803 |
hgdp | rs397508803 |
ensembl | rs397508803 |
geneview | rs397508803 |
scholar | rs397508803 |
rs397508803 | |
pharmgkb | rs397508803 |
gwascentral | rs397508803 |
openSNP | rs397508803 |
23andMe | rs397508803 |
SNPshot | rs397508803 |
SNPdbe | rs397508803 |
MSV3d | rs397508803 |
GWAS Ctlg | rs397508803 |
Status | Merged into rs387906380 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397508803(A;A) |
Alt | rs397508803(A;A) |
Reference | Rs397508803(;) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117176718dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007658.4, |