rs368260932
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs368260932(C;T) |
Make rs368260932(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 21749702 |
Gene | DNAH11 |
is a | snp |
is | mentioned by |
dbSNP | rs368260932 |
dbSNP (classic) | rs368260932 |
ClinGen | rs368260932 |
ebi | rs368260932 |
HLI | rs368260932 |
Exac | rs368260932 |
Gnomad | rs368260932 |
Varsome | rs368260932 |
LitVar | rs368260932 |
Map | rs368260932 |
PheGenI | rs368260932 |
Biobank | rs368260932 |
1000 genomes | rs368260932 |
hgdp | rs368260932 |
ensembl | rs368260932 |
geneview | rs368260932 |
scholar | rs368260932 |
rs368260932 | |
pharmgkb | rs368260932 |
gwascentral | rs368260932 |
openSNP | rs368260932 |
23andMe | rs368260932 |
SNPshot | rs368260932 |
SNPdbe | rs368260932 |
MSV3d | rs368260932 |
GWAS Ctlg | rs368260932 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368260932(T;T) |
Alt | rs368260932(T;T) |
Reference | Rs368260932(C;C) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH11 |
CLNDBN | Ciliary dyskinesia, primary, 7 Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000007.13:g.21789320C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030676.3, RCV000230314.1, |