rs571919972
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs571919972(A;A) |
Make rs571919972(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 13758881 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs571919972 |
dbSNP (classic) | rs571919972 |
ClinGen | rs571919972 |
ebi | rs571919972 |
HLI | rs571919972 |
Exac | rs571919972 |
Gnomad | rs571919972 |
Varsome | rs571919972 |
LitVar | rs571919972 |
Map | rs571919972 |
PheGenI | rs571919972 |
Biobank | rs571919972 |
1000 genomes | rs571919972 |
hgdp | rs571919972 |
ensembl | rs571919972 |
geneview | rs571919972 |
scholar | rs571919972 |
rs571919972 | |
pharmgkb | rs571919972 |
gwascentral | rs571919972 |
openSNP | rs571919972 |
23andMe | rs571919972 |
SNPshot | rs571919972 |
SNPdbe | rs571919972 |
MSV3d | rs571919972 |
GWAS Ctlg | rs571919972 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs571919972(A;A) |
Alt | rs571919972(A;A) |
Reference | Rs571919972(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13758990G>A |
CLNSRC | |
CLNACC | RCV000233866.2, |