rs878854968
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 3 | Carrier of a primary ciliary dyskinesia mutation |
Make rs878854968(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 34500732 |
Gene | DNAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs878854968 |
dbSNP (classic) | rs878854968 |
ClinGen | rs878854968 |
ebi | rs878854968 |
HLI | rs878854968 |
Exac | rs878854968 |
Gnomad | rs878854968 |
Varsome | rs878854968 |
LitVar | rs878854968 |
Map | rs878854968 |
PheGenI | rs878854968 |
Biobank | rs878854968 |
1000 genomes | rs878854968 |
hgdp | rs878854968 |
ensembl | rs878854968 |
geneview | rs878854968 |
scholar | rs878854968 |
rs878854968 | |
pharmgkb | rs878854968 |
gwascentral | rs878854968 |
openSNP | rs878854968 |
23andMe | rs878854968 |
SNPshot | rs878854968 |
SNPdbe | rs878854968 |
MSV3d | rs878854968 |
GWAS Ctlg | rs878854968 |
Max Magnitude | 3 |
c.912C>G (p.Tyr304Ter)
ClinVar | |
---|---|
Risk | rs878854968(G;G) |
Alt | rs878854968(G;G) |
Reference | Rs878854968(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAI1 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000009.11:g.34500730C>G |
CLNSRC | |
CLNACC | RCV000232560.1, |