rs147718607
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs147718607(C;T) |
Make rs147718607(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 48303953 |
Gene | CCDC114 |
is a | snp |
is | mentioned by |
dbSNP | rs147718607 |
dbSNP (classic) | rs147718607 |
ClinGen | rs147718607 |
ebi | rs147718607 |
HLI | rs147718607 |
Exac | rs147718607 |
Gnomad | rs147718607 |
Varsome | rs147718607 |
LitVar | rs147718607 |
Map | rs147718607 |
PheGenI | rs147718607 |
Biobank | rs147718607 |
1000 genomes | rs147718607 |
hgdp | rs147718607 |
ensembl | rs147718607 |
geneview | rs147718607 |
scholar | rs147718607 |
rs147718607 | |
pharmgkb | rs147718607 |
gwascentral | rs147718607 |
openSNP | rs147718607 |
23andMe | rs147718607 |
SNPshot | rs147718607 |
SNPdbe | rs147718607 |
MSV3d | rs147718607 |
GWAS Ctlg | rs147718607 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147718607(T;T) |
Alt | rs147718607(T;T) |
Reference | Rs147718607(C;C) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC114 |
CLNDBN | Ciliary dyskinesia, primary, 20 Kartagener syndrome Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000019.9:g.48807210C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032837.3, RCV000190918.1, RCV000231978.2, |