rs387906379
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 3 | cystic fibrosis carrier |
Make rs387906379(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117627545 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs387906379 |
dbSNP (classic) | rs387906379 |
ClinGen | rs387906379 |
ebi | rs387906379 |
HLI | rs387906379 |
Exac | rs387906379 |
Gnomad | rs387906379 |
Varsome | rs387906379 |
LitVar | rs387906379 |
Map | rs387906379 |
PheGenI | rs387906379 |
Biobank | rs387906379 |
1000 genomes | rs387906379 |
hgdp | rs387906379 |
ensembl | rs387906379 |
geneview | rs387906379 |
scholar | rs387906379 |
rs387906379 | |
pharmgkb | rs387906379 |
gwascentral | rs387906379 |
openSNP | rs387906379 |
23andMe | rs387906379 |
SNPshot | rs387906379 |
SNPdbe | rs387906379 |
MSV3d | rs387906379 |
GWAS Ctlg | rs387906379 |
Merged from | Rs397508576 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs387906379(T;T) |
Alt | rs387906379(T;T) |
Reference | Rs387906379(-;-) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117267599dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007652.4, |