rs79833450
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 rs79833450(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34513165 |
Gene | DNAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs79833450 |
dbSNP (classic) | rs79833450 |
ClinGen | rs79833450 |
ebi | rs79833450 |
HLI | rs79833450 |
Exac | rs79833450 |
Gnomad | rs79833450 |
Varsome | rs79833450 |
LitVar | rs79833450 |
Map | rs79833450 |
PheGenI | rs79833450 |
Biobank | rs79833450 |
1000 genomes | rs79833450 |
hgdp | rs79833450 |
ensembl | rs79833450 |
geneview | rs79833450 |
scholar | rs79833450 |
rs79833450 | |
pharmgkb | rs79833450 |
gwascentral | rs79833450 |
openSNP | rs79833450 |
23andMe | rs79833450 |
SNPshot | rs79833450 |
SNPdbe | rs79833450 |
MSV3d | rs79833450 |
GWAS Ctlg | rs79833450 |
Merged from | Rs28939369 |
Max Magnitude | 3 |
aka c.1543G>A (p.Gly515Ser)
FTDNA & MyHeritage name: VG09S31849
ClinVar | |
---|---|
Risk | rs79833450(A;A) |
Alt | rs79833450(A;A) |
Reference | Rs79833450(G;G) |
Significance | Pathogenic |
Disease | Kartagener syndrome Primary ciliary dyskinesia |
Variation | info |
Gene | DNAI1 |
CLNDBN | Kartagener syndrome Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000009.11:g.34513163G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005956.3, RCV000468431.1, |