rs202094637
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202094637(C;C) |
Make rs202094637(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 32602299 |
Gene | C21orf59 |
is a | snp |
is | mentioned by |
dbSNP | rs202094637 |
dbSNP (classic) | rs202094637 |
ClinGen | rs202094637 |
ebi | rs202094637 |
HLI | rs202094637 |
Exac | rs202094637 |
Gnomad | rs202094637 |
Varsome | rs202094637 |
LitVar | rs202094637 |
Map | rs202094637 |
PheGenI | rs202094637 |
Biobank | rs202094637 |
1000 genomes | rs202094637 |
hgdp | rs202094637 |
ensembl | rs202094637 |
geneview | rs202094637 |
scholar | rs202094637 |
rs202094637 | |
pharmgkb | rs202094637 |
gwascentral | rs202094637 |
openSNP | rs202094637 |
23andMe | rs202094637 |
SNPshot | rs202094637 |
SNPdbe | rs202094637 |
MSV3d | rs202094637 |
GWAS Ctlg | rs202094637 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202094637(A;A) rs202094637(C;C) |
Alt | rs202094637(A;A) rs202094637(C;C) |
Reference | Rs202094637(G;G) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome |
Variation | info |
Gene | C21orf59 |
CLNDBN | Ciliary dyskinesia, primary, 26 Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000021.8:g.33974609G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074371.3, RCV000190938.1, |