rs267607227
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267607227(G;G) |
Make rs267607227(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 84154748 |
Gene | DNAAF1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607227 |
dbSNP (classic) | rs267607227 |
ClinGen | rs267607227 |
ebi | rs267607227 |
HLI | rs267607227 |
Exac | rs267607227 |
Gnomad | rs267607227 |
Varsome | rs267607227 |
LitVar | rs267607227 |
Map | rs267607227 |
PheGenI | rs267607227 |
Biobank | rs267607227 |
1000 genomes | rs267607227 |
hgdp | rs267607227 |
ensembl | rs267607227 |
geneview | rs267607227 |
scholar | rs267607227 |
rs267607227 | |
pharmgkb | rs267607227 |
gwascentral | rs267607227 |
openSNP | rs267607227 |
23andMe | rs267607227 |
SNPshot | rs267607227 |
SNPdbe | rs267607227 |
MSV3d | rs267607227 |
GWAS Ctlg | rs267607227 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607227(G;G) |
Alt | rs267607227(G;G) |
Reference | Rs267607227(T;T) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome |
Variation | info |
Gene | DNAAF1 |
CLNDBN | Ciliary dyskinesia, primary, 13 Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.84188353T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000291.4, RCV000190914.1, |