rs769975073
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs769975073(A;A) |
Make rs769975073(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 43794508 |
Gene | DYNC2LI1 |
is a | snp |
is | mentioned by |
dbSNP | rs769975073 |
dbSNP (classic) | rs769975073 |
ClinGen | rs769975073 |
ebi | rs769975073 |
HLI | rs769975073 |
Exac | rs769975073 |
Gnomad | rs769975073 |
Varsome | rs769975073 |
LitVar | rs769975073 |
Map | rs769975073 |
PheGenI | rs769975073 |
Biobank | rs769975073 |
1000 genomes | rs769975073 |
hgdp | rs769975073 |
ensembl | rs769975073 |
geneview | rs769975073 |
scholar | rs769975073 |
rs769975073 | |
pharmgkb | rs769975073 |
gwascentral | rs769975073 |
openSNP | rs769975073 |
23andMe | rs769975073 |
SNPshot | rs769975073 |
SNPdbe | rs769975073 |
MSV3d | rs769975073 |
GWAS Ctlg | rs769975073 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769975073(A;A) |
Alt | rs769975073(A;A) |
Reference | Rs769975073(G;G) |
Significance | Pathogenic |
Disease | Short-rib thoracic dysplasia 15 with polydactyly |
Variation | info |
Gene | DYNC2LI1 |
CLNDBN | Short-rib thoracic dysplasia 15 with polydactyly |
Reversed | 0 |
HGVS | NC_000002.11:g.44021647G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239657.1, |