rs387906406
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs387906406(-;-) |
Make rs387906406(-;CT) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 49991819 |
Gene | DLX3 |
is a | snp |
is | mentioned by |
dbSNP | rs387906406 |
dbSNP (classic) | rs387906406 |
ClinGen | rs387906406 |
ebi | rs387906406 |
HLI | rs387906406 |
Exac | rs387906406 |
Gnomad | rs387906406 |
Varsome | rs387906406 |
LitVar | rs387906406 |
Map | rs387906406 |
PheGenI | rs387906406 |
Biobank | rs387906406 |
1000 genomes | rs387906406 |
hgdp | rs387906406 |
ensembl | rs387906406 |
geneview | rs387906406 |
scholar | rs387906406 |
rs387906406 | |
pharmgkb | rs387906406 |
gwascentral | rs387906406 |
openSNP | rs387906406 |
23andMe | rs387906406 |
SNPshot | rs387906406 |
SNPdbe | rs387906406 |
MSV3d | rs387906406 |
GWAS Ctlg | rs387906406 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906406(-;-) |
Alt | rs387906406(-;-) |
Reference | Rs387906406(CT;CT) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta Tricho-dento-osseous syndrome |
Variation | info |
Gene | DLX3 |
CLNDBN | Amelogenesis imperfecta, type IV Tricho-dento-osseous syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.48069183_48069184delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009640.2, RCV000009641.4, |