rs387907152
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907152(C;T) |
Make rs387907152(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 55165427 |
Gene | DNAAF3 |
is a | snp |
is | mentioned by |
dbSNP | rs387907152 |
dbSNP (classic) | rs387907152 |
ClinGen | rs387907152 |
ebi | rs387907152 |
HLI | rs387907152 |
Exac | rs387907152 |
Gnomad | rs387907152 |
Varsome | rs387907152 |
LitVar | rs387907152 |
Map | rs387907152 |
PheGenI | rs387907152 |
Biobank | rs387907152 |
1000 genomes | rs387907152 |
hgdp | rs387907152 |
ensembl | rs387907152 |
geneview | rs387907152 |
scholar | rs387907152 |
rs387907152 | |
pharmgkb | rs387907152 |
gwascentral | rs387907152 |
openSNP | rs387907152 |
23andMe | rs387907152 |
SNPshot | rs387907152 |
SNPdbe | rs387907152 |
MSV3d | rs387907152 |
GWAS Ctlg | rs387907152 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907152(T;T) |
Alt | rs387907152(T;T) |
Reference | Rs387907152(C;C) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome |
Variation | info |
Gene | DNAAF3 |
CLNDBN | Ciliary dyskinesia, primary, 2 Kartagener syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.55676795G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024244.4, RCV000190869.1, |