rs138890576
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs138890576(A;G) |
Make rs138890576(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 13844931 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs138890576 |
dbSNP (classic) | rs138890576 |
ClinGen | rs138890576 |
ebi | rs138890576 |
HLI | rs138890576 |
Exac | rs138890576 |
Gnomad | rs138890576 |
Varsome | rs138890576 |
LitVar | rs138890576 |
Map | rs138890576 |
PheGenI | rs138890576 |
Biobank | rs138890576 |
1000 genomes | rs138890576 |
hgdp | rs138890576 |
ensembl | rs138890576 |
geneview | rs138890576 |
scholar | rs138890576 |
rs138890576 | |
pharmgkb | rs138890576 |
gwascentral | rs138890576 |
openSNP | rs138890576 |
23andMe | rs138890576 |
SNPshot | rs138890576 |
SNPdbe | rs138890576 |
MSV3d | rs138890576 |
GWAS Ctlg | rs138890576 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138890576(G;G) |
Alt | rs138890576(G;G) |
Reference | Rs138890576(A;A) |
Significance | Probable-Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Ciliary dyskinesia, primary, 3 |
Reversed | 0 |
HGVS | NC_000005.9:g.13845040A>G |
CLNSRC | |
CLNACC | RCV000408603.1, |