rs121908853
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908853(C;T) |
Make rs121908853(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 13901476 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs121908853 |
dbSNP (classic) | rs121908853 |
ClinGen | rs121908853 |
ebi | rs121908853 |
HLI | rs121908853 |
Exac | rs121908853 |
Gnomad | rs121908853 |
Varsome | rs121908853 |
LitVar | rs121908853 |
Map | rs121908853 |
PheGenI | rs121908853 |
Biobank | rs121908853 |
1000 genomes | rs121908853 |
hgdp | rs121908853 |
ensembl | rs121908853 |
geneview | rs121908853 |
scholar | rs121908853 |
rs121908853 | |
pharmgkb | rs121908853 |
gwascentral | rs121908853 |
openSNP | rs121908853 |
23andMe | rs121908853 |
SNPshot | rs121908853 |
SNPdbe | rs121908853 |
MSV3d | rs121908853 |
GWAS Ctlg | rs121908853 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908853(G;G) rs121908853(T;T) |
Alt | rs121908853(G;G) rs121908853(T;T) |
Reference | Rs121908853(C;C) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Ciliary dyskinesia, primary, 3 |
Reversed | 1 |
HGVS | NC_000005.9:g.13901585G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006853.3, |