rs398122401
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTTA;TTTA) | 0 | common in clinvar |
Make rs398122401(-;-) |
Make rs398122401(-;TTTA) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 32601941 |
Gene | C21orf59 |
is a | snp |
is | mentioned by |
dbSNP | rs398122401 |
dbSNP (classic) | rs398122401 |
ClinGen | rs398122401 |
ebi | rs398122401 |
HLI | rs398122401 |
Exac | rs398122401 |
Gnomad | rs398122401 |
Varsome | rs398122401 |
LitVar | rs398122401 |
Map | rs398122401 |
PheGenI | rs398122401 |
Biobank | rs398122401 |
1000 genomes | rs398122401 |
hgdp | rs398122401 |
ensembl | rs398122401 |
geneview | rs398122401 |
scholar | rs398122401 |
rs398122401 | |
pharmgkb | rs398122401 |
gwascentral | rs398122401 |
openSNP | rs398122401 |
23andMe | rs398122401 |
SNPshot | rs398122401 |
SNPdbe | rs398122401 |
MSV3d | rs398122401 |
GWAS Ctlg | rs398122401 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122401(-;-) |
Alt | rs398122401(-;-) |
Reference | Rs398122401(TTTA;TTTA) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome |
Variation | info |
Gene | C21orf59 |
CLNDBN | Ciliary dyskinesia, primary, 26 Kartagener syndrome |
Reversed | 1 |
HGVS | NC_000021.8:g.33974251_33974254delTAAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074373.4, RCV000190939.1, |