rs876657683
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 3 | Carrier of a primary ciliary dyskinesia mutation |
(C;C) | 0 | common in clinvar |
Make rs876657683(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 34489397 |
Gene | DNAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs876657683 |
dbSNP (classic) | rs876657683 |
ClinGen | rs876657683 |
ebi | rs876657683 |
HLI | rs876657683 |
Exac | rs876657683 |
Gnomad | rs876657683 |
Varsome | rs876657683 |
LitVar | rs876657683 |
Map | rs876657683 |
PheGenI | rs876657683 |
Biobank | rs876657683 |
1000 genomes | rs876657683 |
hgdp | rs876657683 |
ensembl | rs876657683 |
geneview | rs876657683 |
scholar | rs876657683 |
rs876657683 | |
pharmgkb | rs876657683 |
gwascentral | rs876657683 |
openSNP | rs876657683 |
23andMe | rs876657683 |
SNPshot | rs876657683 |
SNPdbe | rs876657683 |
MSV3d | rs876657683 |
GWAS Ctlg | rs876657683 |
Max Magnitude | 3 |
aka c.336delC (p.Asp114Thrfs)
ClinVar | |
---|---|
Risk | rs876657683(-;-) |
Alt | rs876657683(-;-) |
Reference | Rs876657683(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAI1 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000009.11:g.34489395delC |
CLNSRC | |
CLNACC | RCV000216627.1, |