rs1871450
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1871450(A;A) |
Make rs1871450(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 72012256 |
Gene | CHST3 |
is a | snp |
is | mentioned by |
dbSNP | rs1871450 |
dbSNP (classic) | rs1871450 |
ClinGen | rs1871450 |
ebi | rs1871450 |
HLI | rs1871450 |
Exac | rs1871450 |
Gnomad | rs1871450 |
Varsome | rs1871450 |
LitVar | rs1871450 |
Map | rs1871450 |
PheGenI | rs1871450 |
Biobank | rs1871450 |
1000 genomes | rs1871450 |
hgdp | rs1871450 |
ensembl | rs1871450 |
geneview | rs1871450 |
scholar | rs1871450 |
rs1871450 | |
pharmgkb | rs1871450 |
gwascentral | rs1871450 |
openSNP | rs1871450 |
23andMe | rs1871450 |
SNPshot | rs1871450 |
SNPdbe | rs1871450 |
MSV3d | rs1871450 |
GWAS Ctlg | rs1871450 |
GMAF | 0.3154 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1871450(A;A) |
Alt | rs1871450(A;A) |
Reference | Rs1871450(G;G) |
Significance | Non-pathogenic |
Disease | Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia Larsen syndrome |
Variation | info |
Gene | CHST3 |
CLNDBN | Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia Larsen syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.73772014G>A |
CLNSRC | |
CLNACC | RCV000277899.1, RCV000332798.1, RCV000363106.1, RCV000387337.1, |