rs374909386
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs374909386(C;T) |
Make rs374909386(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 80099700 |
Gene | CCDC40, GAA |
is a | snp |
is | mentioned by |
dbSNP | rs374909386 |
dbSNP (classic) | rs374909386 |
ClinGen | rs374909386 |
ebi | rs374909386 |
HLI | rs374909386 |
Exac | rs374909386 |
Gnomad | rs374909386 |
Varsome | rs374909386 |
LitVar | rs374909386 |
Map | rs374909386 |
PheGenI | rs374909386 |
Biobank | rs374909386 |
1000 genomes | rs374909386 |
hgdp | rs374909386 |
ensembl | rs374909386 |
geneview | rs374909386 |
scholar | rs374909386 |
rs374909386 | |
pharmgkb | rs374909386 |
gwascentral | rs374909386 |
openSNP | rs374909386 |
23andMe | rs374909386 |
SNPshot | rs374909386 |
SNPdbe | rs374909386 |
MSV3d | rs374909386 |
GWAS Ctlg | rs374909386 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374909386(A;A) rs374909386(T;T) |
Alt | rs374909386(A;A) rs374909386(T;T) |
Reference | Rs374909386(C;C) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | CCDC40 GAA |
CLNDBN | Ciliary dyskinesia, primary, 15 |
Reversed | 0 |
HGVS | NC_000017.10:g.78073499C>A |
CLNSRC | |
CLNACC | RCV000176107.1, |