rs3740129
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs3740129(A;A) |
Make rs3740129(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 72008101 |
Gene | CHST3 |
is a | snp |
is | mentioned by |
dbSNP | rs3740129 |
dbSNP (classic) | rs3740129 |
ClinGen | rs3740129 |
ebi | rs3740129 |
HLI | rs3740129 |
Exac | rs3740129 |
Gnomad | rs3740129 |
Varsome | rs3740129 |
LitVar | rs3740129 |
Map | rs3740129 |
PheGenI | rs3740129 |
Biobank | rs3740129 |
1000 genomes | rs3740129 |
hgdp | rs3740129 |
ensembl | rs3740129 |
geneview | rs3740129 |
scholar | rs3740129 |
rs3740129 | |
pharmgkb | rs3740129 |
gwascentral | rs3740129 |
openSNP | rs3740129 |
23andMe | rs3740129 |
SNPshot | rs3740129 |
SNPdbe | rs3740129 |
MSV3d | rs3740129 |
GWAS Ctlg | rs3740129 |
GMAF | 0.287 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs3740129(A;A) |
Alt | rs3740129(A;A) |
Reference | Rs3740129(G;G) |
Significance | Non-pathogenic |
Disease | Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia Larsen syndrome Skeletal dysplasia not specified |
Variation | info |
Gene | CHST3 |
CLNDBN | Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia Larsen syndrome Skeletal dysplasia not specified |
Reversed | 0 |
HGVS | NC_000010.10:g.73767859G>A |
CLNSRC | |
CLNACC | RCV000284253.1, RCV000287863.1, RCV000342801.1, RCV000378701.1, RCV000408312.1, |