rs387906374
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | cystic fibrosis carrier |
Make rs387906374(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117509146 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs387906374 |
dbSNP (classic) | rs387906374 |
ClinGen | rs387906374 |
ebi | rs387906374 |
HLI | rs387906374 |
Exac | rs387906374 |
Gnomad | rs387906374 |
Varsome | rs387906374 |
LitVar | rs387906374 |
Map | rs387906374 |
PheGenI | rs387906374 |
Biobank | rs387906374 |
1000 genomes | rs387906374 |
hgdp | rs387906374 |
ensembl | rs387906374 |
geneview | rs387906374 |
scholar | rs387906374 |
rs387906374 | |
pharmgkb | rs387906374 |
gwascentral | rs387906374 |
openSNP | rs387906374 |
23andMe | rs387906374 |
SNPshot | rs387906374 |
SNPdbe | rs387906374 |
MSV3d | rs387906374 |
GWAS Ctlg | rs387906374 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs387906374(G;G) |
Alt | rs387906374(G;G) |
Reference | Rs387906374(A;A) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117149200A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007620.3, |