rs376252276
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a primary ciliary dyskinesia mutation |
(G;G) | 0 | common in clinvar |
Make rs376252276(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34513112 |
Gene | DNAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs376252276 |
dbSNP (classic) | rs376252276 |
ClinGen | rs376252276 |
ebi | rs376252276 |
HLI | rs376252276 |
Exac | rs376252276 |
Gnomad | rs376252276 |
Varsome | rs376252276 |
LitVar | rs376252276 |
Map | rs376252276 |
PheGenI | rs376252276 |
Biobank | rs376252276 |
1000 genomes | rs376252276 |
hgdp | rs376252276 |
ensembl | rs376252276 |
geneview | rs376252276 |
scholar | rs376252276 |
rs376252276 | |
pharmgkb | rs376252276 |
gwascentral | rs376252276 |
openSNP | rs376252276 |
23andMe | rs376252276 |
SNPshot | rs376252276 |
SNPdbe | rs376252276 |
MSV3d | rs376252276 |
GWAS Ctlg | rs376252276 |
Max Magnitude | 3 |
aka c.1490G>A (p.Gly497Asp)
ClinVar | |
---|---|
Risk | rs376252276(A;A) rs376252276(T;T) |
Alt | rs376252276(A;A) rs376252276(T;T) |
Reference | Rs376252276(G;G) |
Significance | Pathogenic |
Disease | Kartagener syndrome |
Variation | info |
Gene | DNAI1 |
CLNDBN | Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.34513110G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055932.2, |