rs200901816
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200901816(A;A) |
Make rs200901816(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 13701289 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs200901816 |
dbSNP (classic) | rs200901816 |
ClinGen | rs200901816 |
ebi | rs200901816 |
HLI | rs200901816 |
Exac | rs200901816 |
Gnomad | rs200901816 |
Varsome | rs200901816 |
LitVar | rs200901816 |
Map | rs200901816 |
PheGenI | rs200901816 |
Biobank | rs200901816 |
1000 genomes | rs200901816 |
hgdp | rs200901816 |
ensembl | rs200901816 |
geneview | rs200901816 |
scholar | rs200901816 |
rs200901816 | |
pharmgkb | rs200901816 |
gwascentral | rs200901816 |
openSNP | rs200901816 |
23andMe | rs200901816 |
SNPshot | rs200901816 |
SNPdbe | rs200901816 |
MSV3d | rs200901816 |
GWAS Ctlg | rs200901816 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200901816(A;A) |
Alt | rs200901816(A;A) |
Reference | Rs200901816(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13701398G>A |
CLNSRC | |
CLNACC | RCV000471460.1, |