rs775946081
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs775946081(A;A) |
Make rs775946081(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 13793710 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs775946081 |
dbSNP (classic) | rs775946081 |
ClinGen | rs775946081 |
ebi | rs775946081 |
HLI | rs775946081 |
Exac | rs775946081 |
Gnomad | rs775946081 |
Varsome | rs775946081 |
LitVar | rs775946081 |
Map | rs775946081 |
PheGenI | rs775946081 |
Biobank | rs775946081 |
1000 genomes | rs775946081 |
hgdp | rs775946081 |
ensembl | rs775946081 |
geneview | rs775946081 |
scholar | rs775946081 |
rs775946081 | |
pharmgkb | rs775946081 |
gwascentral | rs775946081 |
openSNP | rs775946081 |
23andMe | rs775946081 |
SNPshot | rs775946081 |
SNPdbe | rs775946081 |
MSV3d | rs775946081 |
GWAS Ctlg | rs775946081 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775946081(A;A) |
Alt | rs775946081(A;A) |
Reference | Rs775946081(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13793819G>A |
CLNSRC | |
CLNACC | RCV000232132.2, |