rs544674332
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs544674332(A;C) |
Make rs544674332(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 52353613 |
Gene | DNAH1 |
is a | snp |
is | mentioned by |
dbSNP | rs544674332 |
dbSNP (classic) | rs544674332 |
ClinGen | rs544674332 |
ebi | rs544674332 |
HLI | rs544674332 |
Exac | rs544674332 |
Gnomad | rs544674332 |
Varsome | rs544674332 |
LitVar | rs544674332 |
Map | rs544674332 |
PheGenI | rs544674332 |
Biobank | rs544674332 |
1000 genomes | rs544674332 |
hgdp | rs544674332 |
ensembl | rs544674332 |
geneview | rs544674332 |
scholar | rs544674332 |
rs544674332 | |
pharmgkb | rs544674332 |
gwascentral | rs544674332 |
openSNP | rs544674332 |
23andMe | rs544674332 |
SNPshot | rs544674332 |
SNPdbe | rs544674332 |
MSV3d | rs544674332 |
GWAS Ctlg | rs544674332 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs544674332(C;C) |
Alt | rs544674332(C;C) |
Reference | Rs544674332(A;A) |
Significance | Pathogenic |
Disease | Kartagener syndrome |
Variation | info |
Gene | DNAH1 |
CLNDBN | Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.52387629A>C |
CLNSRC | |
CLNACC | RCV000190948.1, |