rs138815960
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs138815960(A;C) |
Make rs138815960(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 50345533 |
Gene | ZMYND10 |
is a | snp |
is | mentioned by |
dbSNP | rs138815960 |
dbSNP (classic) | rs138815960 |
ClinGen | rs138815960 |
ebi | rs138815960 |
HLI | rs138815960 |
Exac | rs138815960 |
Gnomad | rs138815960 |
Varsome | rs138815960 |
LitVar | rs138815960 |
Map | rs138815960 |
PheGenI | rs138815960 |
Biobank | rs138815960 |
1000 genomes | rs138815960 |
hgdp | rs138815960 |
ensembl | rs138815960 |
geneview | rs138815960 |
scholar | rs138815960 |
rs138815960 | |
pharmgkb | rs138815960 |
gwascentral | rs138815960 |
openSNP | rs138815960 |
23andMe | rs138815960 |
SNPshot | rs138815960 |
SNPdbe | rs138815960 |
MSV3d | rs138815960 |
GWAS Ctlg | rs138815960 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138815960(C;C) |
Alt | rs138815960(C;C) |
Reference | Rs138815960(A;A) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia |
Variation | info |
Gene | ZMYND10 |
CLNDBN | Ciliary dyskinesia, primary, 22 Kartagener syndrome Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000003.11:g.50382964A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000056264.3, RCV000190919.1, RCV000459281.1, |