rs144711161
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs144711161(A;A) |
Make rs144711161(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 38899907 |
Gene | DNAH8 |
is a | snp |
is | mentioned by |
dbSNP | rs144711161 |
dbSNP (classic) | rs144711161 |
ClinGen | rs144711161 |
ebi | rs144711161 |
HLI | rs144711161 |
Exac | rs144711161 |
Gnomad | rs144711161 |
Varsome | rs144711161 |
LitVar | rs144711161 |
Map | rs144711161 |
PheGenI | rs144711161 |
Biobank | rs144711161 |
1000 genomes | rs144711161 |
hgdp | rs144711161 |
ensembl | rs144711161 |
geneview | rs144711161 |
scholar | rs144711161 |
rs144711161 | |
pharmgkb | rs144711161 |
gwascentral | rs144711161 |
openSNP | rs144711161 |
23andMe | rs144711161 |
SNPshot | rs144711161 |
SNPdbe | rs144711161 |
MSV3d | rs144711161 |
GWAS Ctlg | rs144711161 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144711161(A;A) |
Alt | rs144711161(A;A) |
Reference | Rs144711161(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH8 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000006.11:g.38867683G>A |
CLNSRC | |
CLNACC | RCV000228661.1, |