rs672601333
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs672601333(-;T) |
Make rs672601333(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 13894819 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs672601333 |
dbSNP (classic) | rs672601333 |
ClinGen | rs672601333 |
ebi | rs672601333 |
HLI | rs672601333 |
Exac | rs672601333 |
Gnomad | rs672601333 |
Varsome | rs672601333 |
LitVar | rs672601333 |
Map | rs672601333 |
PheGenI | rs672601333 |
Biobank | rs672601333 |
1000 genomes | rs672601333 |
hgdp | rs672601333 |
ensembl | rs672601333 |
geneview | rs672601333 |
scholar | rs672601333 |
rs672601333 | |
pharmgkb | rs672601333 |
gwascentral | rs672601333 |
openSNP | rs672601333 |
23andMe | rs672601333 |
SNPshot | rs672601333 |
SNPdbe | rs672601333 |
MSV3d | rs672601333 |
GWAS Ctlg | rs672601333 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601333(T;T) |
Alt | rs672601333(T;T) |
Reference | Rs672601333(-;-) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Ciliary dyskinesia, primary, 3 |
Reversed | 1 |
HGVS | NC_000005.9:g.13894929dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032853.5, |