rs201943194
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201943194(C;T) |
Make rs201943194(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 7 |
Position | 21710596 |
Gene | DNAH11 |
is a | snp |
is | mentioned by |
dbSNP | rs201943194 |
dbSNP (classic) | rs201943194 |
ClinGen | rs201943194 |
ebi | rs201943194 |
HLI | rs201943194 |
Exac | rs201943194 |
Gnomad | rs201943194 |
Varsome | rs201943194 |
LitVar | rs201943194 |
Map | rs201943194 |
PheGenI | rs201943194 |
Biobank | rs201943194 |
1000 genomes | rs201943194 |
hgdp | rs201943194 |
ensembl | rs201943194 |
geneview | rs201943194 |
scholar | rs201943194 |
rs201943194 | |
pharmgkb | rs201943194 |
gwascentral | rs201943194 |
openSNP | rs201943194 |
23andMe | rs201943194 |
SNPshot | rs201943194 |
SNPdbe | rs201943194 |
MSV3d | rs201943194 |
GWAS Ctlg | rs201943194 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201943194(T;T) |
Alt | rs201943194(T;T) |
Reference | Rs201943194(C;C) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH11 |
CLNDBN | Ciliary dyskinesia, primary, 7 Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000007.13:g.21750214C>T |
CLNSRC | |
CLNACC | RCV000289819.1, RCV000461399.1, |