rs143740376
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs143740376(A;A) |
Make rs143740376(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 32609853 |
Gene | C21orf59 |
is a | snp |
is | mentioned by |
dbSNP | rs143740376 |
dbSNP (classic) | rs143740376 |
ClinGen | rs143740376 |
ebi | rs143740376 |
HLI | rs143740376 |
Exac | rs143740376 |
Gnomad | rs143740376 |
Varsome | rs143740376 |
LitVar | rs143740376 |
Map | rs143740376 |
PheGenI | rs143740376 |
Biobank | rs143740376 |
1000 genomes | rs143740376 |
hgdp | rs143740376 |
ensembl | rs143740376 |
geneview | rs143740376 |
scholar | rs143740376 |
rs143740376 | |
pharmgkb | rs143740376 |
gwascentral | rs143740376 |
openSNP | rs143740376 |
23andMe | rs143740376 |
SNPshot | rs143740376 |
SNPdbe | rs143740376 |
MSV3d | rs143740376 |
GWAS Ctlg | rs143740376 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143740376(A;A) |
Alt | rs143740376(A;A) |
Reference | Rs143740376(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.33982163G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074372.4, RCV000190937.1, |