rs769284314
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a primary ciliary dyskinesia mutation |
(G;G) | 0 | common in clinvar |
Make rs769284314(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 34506870 |
Gene | DNAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs769284314 |
dbSNP (classic) | rs769284314 |
ClinGen | rs769284314 |
ebi | rs769284314 |
HLI | rs769284314 |
Exac | rs769284314 |
Gnomad | rs769284314 |
Varsome | rs769284314 |
LitVar | rs769284314 |
Map | rs769284314 |
PheGenI | rs769284314 |
Biobank | rs769284314 |
1000 genomes | rs769284314 |
hgdp | rs769284314 |
ensembl | rs769284314 |
geneview | rs769284314 |
scholar | rs769284314 |
rs769284314 | |
pharmgkb | rs769284314 |
gwascentral | rs769284314 |
openSNP | rs769284314 |
23andMe | rs769284314 |
SNPshot | rs769284314 |
SNPdbe | rs769284314 |
MSV3d | rs769284314 |
GWAS Ctlg | rs769284314 |
Max Magnitude | 3 |
aka c.1307G>A (p.Trp436Ter)
ClinVar | |
---|---|
Risk | rs769284314(A;A) |
Alt | rs769284314(A;A) |
Reference | Rs769284314(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAI1 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000009.11:g.34506868G>A |
CLNSRC | |
CLNACC | RCV000228761.1, |