rs200669099
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 rs200669099(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 34514468 |
Gene | DNAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs200669099 |
dbSNP (classic) | rs200669099 |
ClinGen | rs200669099 |
ebi | rs200669099 |
HLI | rs200669099 |
Exac | rs200669099 |
Gnomad | rs200669099 |
Varsome | rs200669099 |
LitVar | rs200669099 |
Map | rs200669099 |
PheGenI | rs200669099 |
Biobank | rs200669099 |
1000 genomes | rs200669099 |
hgdp | rs200669099 |
ensembl | rs200669099 |
geneview | rs200669099 |
scholar | rs200669099 |
rs200669099 | |
pharmgkb | rs200669099 |
gwascentral | rs200669099 |
openSNP | rs200669099 |
23andMe | rs200669099 |
SNPshot | rs200669099 |
SNPdbe | rs200669099 |
MSV3d | rs200669099 |
GWAS Ctlg | rs200669099 |
Max Magnitude | 3 |
aka c.1644G>A (p.Trp548Ter)
ClinVar | |
---|---|
Risk | rs200669099(A;A) |
Alt | rs200669099(A;A) |
Reference | Rs200669099(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAI1 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000009.11:g.34514466G>A |
CLNSRC | |
CLNACC | RCV000231603.1, |