rs755338872
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs755338872(-;-) |
Make rs755338872(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 103154501 |
Gene | DYNC2H1 |
is a | snp |
is | mentioned by |
dbSNP | rs755338872 |
dbSNP (classic) | rs755338872 |
ClinGen | rs755338872 |
ebi | rs755338872 |
HLI | rs755338872 |
Exac | rs755338872 |
Gnomad | rs755338872 |
Varsome | rs755338872 |
LitVar | rs755338872 |
Map | rs755338872 |
PheGenI | rs755338872 |
Biobank | rs755338872 |
1000 genomes | rs755338872 |
hgdp | rs755338872 |
ensembl | rs755338872 |
geneview | rs755338872 |
scholar | rs755338872 |
rs755338872 | |
pharmgkb | rs755338872 |
gwascentral | rs755338872 |
openSNP | rs755338872 |
23andMe | rs755338872 |
SNPshot | rs755338872 |
SNPdbe | rs755338872 |
MSV3d | rs755338872 |
GWAS Ctlg | rs755338872 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755338872(-;-) |
Alt | rs755338872(-;-) |
Reference | Rs755338872(G;G) |
Significance | Pathogenic |
Disease | Short-rib thoracic dysplasia 3 with or without polydactyly |
Variation | info |
Gene | DYNC2H1 |
CLNDBN | Short-rib thoracic dysplasia 3 with or without polydactyly |
Reversed | 0 |
HGVS | NC_000011.9:g.103025230delG |
CLNSRC | |
CLNACC | RCV000176375.1, |