rs727502971
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAGA;CAGA) | 0 | common in clinvar |
Make rs727502971(-;-) |
Make rs727502971(-;CAGA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 13708264 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs727502971 |
dbSNP (classic) | rs727502971 |
ClinGen | rs727502971 |
ebi | rs727502971 |
HLI | rs727502971 |
Exac | rs727502971 |
Gnomad | rs727502971 |
Varsome | rs727502971 |
LitVar | rs727502971 |
Map | rs727502971 |
PheGenI | rs727502971 |
Biobank | rs727502971 |
1000 genomes | rs727502971 |
hgdp | rs727502971 |
ensembl | rs727502971 |
geneview | rs727502971 |
scholar | rs727502971 |
rs727502971 | |
pharmgkb | rs727502971 |
gwascentral | rs727502971 |
openSNP | rs727502971 |
23andMe | rs727502971 |
SNPshot | rs727502971 |
SNPdbe | rs727502971 |
MSV3d | rs727502971 |
GWAS Ctlg | rs727502971 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502971(-;-) |
Alt | rs727502971(-;-) |
Reference | Rs727502971(CAGA;CAGA) |
Significance | Probable-Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 1 |
HGVS | NC_000005.9:g.13708373_13708376delTCTG |
CLNSRC | |
CLNACC | RCV000150465.1, |