rs339445
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(C;C) | 0 | common in complete genomics |
Make rs339445(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 13944403 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs339445 |
dbSNP (classic) | rs339445 |
ClinGen | rs339445 |
ebi | rs339445 |
HLI | rs339445 |
Exac | rs339445 |
Gnomad | rs339445 |
Varsome | rs339445 |
LitVar | rs339445 |
Map | rs339445 |
PheGenI | rs339445 |
Biobank | rs339445 |
1000 genomes | rs339445 |
hgdp | rs339445 |
ensembl | rs339445 |
geneview | rs339445 |
scholar | rs339445 |
rs339445 | |
pharmgkb | rs339445 |
gwascentral | rs339445 |
openSNP | rs339445 |
23andMe | rs339445 |
SNPshot | rs339445 |
SNPdbe | rs339445 |
MSV3d | rs339445 |
GWAS Ctlg | rs339445 |
GMAF | 0.08494 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs339445(C;C) |
Alt | Rs339445(C;C) |
Reference | Rs339445(A;A) |
Significance | Non-pathogenic |
Disease | not specified Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | not specified Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13944512A>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000155520.2, RCV000303227.1, |