rs784133
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs784133(C;C) |
Make rs784133(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 116629670 |
Gene | RSPH4A |
is a | snp |
is | mentioned by |
dbSNP | rs784133 |
dbSNP (classic) | rs784133 |
ClinGen | rs784133 |
ebi | rs784133 |
HLI | rs784133 |
Exac | rs784133 |
Gnomad | rs784133 |
Varsome | rs784133 |
LitVar | rs784133 |
Map | rs784133 |
PheGenI | rs784133 |
Biobank | rs784133 |
1000 genomes | rs784133 |
hgdp | rs784133 |
ensembl | rs784133 |
geneview | rs784133 |
scholar | rs784133 |
rs784133 | |
pharmgkb | rs784133 |
gwascentral | rs784133 |
openSNP | rs784133 |
23andMe | rs784133 |
SNPshot | rs784133 |
SNPdbe | rs784133 |
MSV3d | rs784133 |
GWAS Ctlg | rs784133 |
GMAF | 0.3421 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 22448264] Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients
ClinVar | |
---|---|
Risk | rs784133(C;C) |
Alt | rs784133(C;C) |
Reference | Rs784133(T;T) |
Significance | Non-pathogenic |
Disease | not specified Primary ciliary dyskinesia |
Variation | info |
Gene | RSPH4A |
CLNDBN | not specified Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000006.11:g.116950833T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000151747.4, RCV000369719.1, |