rs397515563
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 rs397515563(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34517468 |
Gene | DNAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs397515563 |
dbSNP (classic) | rs397515563 |
ClinGen | rs397515563 |
ebi | rs397515563 |
HLI | rs397515563 |
Exac | rs397515563 |
Gnomad | rs397515563 |
Varsome | rs397515563 |
LitVar | rs397515563 |
Map | rs397515563 |
PheGenI | rs397515563 |
Biobank | rs397515563 |
1000 genomes | rs397515563 |
hgdp | rs397515563 |
ensembl | rs397515563 |
geneview | rs397515563 |
scholar | rs397515563 |
rs397515563 | |
pharmgkb | rs397515563 |
gwascentral | rs397515563 |
openSNP | rs397515563 |
23andMe | rs397515563 |
SNPshot | rs397515563 |
SNPdbe | rs397515563 |
MSV3d | rs397515563 |
GWAS Ctlg | rs397515563 |
Max Magnitude | 3 |
aka c.2001+1G>A (p.Ala607_Lys667del)
ClinVar | |
---|---|
Risk | rs397515563(A;A) |
Alt | rs397515563(A;A) |
Reference | Rs397515563(G;G) |
Significance | Pathogenic |
Disease | Kartagener syndrome |
Variation | info |
Gene | DNAI1 |
CLNDBN | Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.34517466G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055933.2, |