rs387906370
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 3 | cystic fibrosis carrier |
(C;C) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117642487 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs387906370 |
dbSNP (classic) | rs387906370 |
ClinGen | rs387906370 |
ebi | rs387906370 |
HLI | rs387906370 |
Exac | rs387906370 |
Gnomad | rs387906370 |
Varsome | rs387906370 |
LitVar | rs387906370 |
Map | rs387906370 |
PheGenI | rs387906370 |
Biobank | rs387906370 |
1000 genomes | rs387906370 |
hgdp | rs387906370 |
ensembl | rs387906370 |
geneview | rs387906370 |
scholar | rs387906370 |
rs387906370 | |
pharmgkb | rs387906370 |
gwascentral | rs387906370 |
openSNP | rs387906370 |
23andMe | rs387906370 |
SNPshot | rs387906370 |
SNPdbe | rs387906370 |
MSV3d | rs387906370 |
GWAS Ctlg | rs387906370 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | Rs387906370(C;C) rs387906370(T;T) |
Alt | Rs387906370(C;C) rs387906370(T;T) |
Reference | Rs387906370(-;-) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117282541dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007598.4, |