rs730720
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730720(A;A) |
Make rs730720(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 72013004 |
Gene | CHST3 |
is a | snp |
is | mentioned by |
dbSNP | rs730720 |
dbSNP (classic) | rs730720 |
ClinGen | rs730720 |
ebi | rs730720 |
HLI | rs730720 |
Exac | rs730720 |
Gnomad | rs730720 |
Varsome | rs730720 |
LitVar | rs730720 |
Map | rs730720 |
PheGenI | rs730720 |
Biobank | rs730720 |
1000 genomes | rs730720 |
hgdp | rs730720 |
ensembl | rs730720 |
geneview | rs730720 |
scholar | rs730720 |
rs730720 | |
pharmgkb | rs730720 |
gwascentral | rs730720 |
openSNP | rs730720 |
23andMe | rs730720 |
SNPshot | rs730720 |
SNPdbe | rs730720 |
MSV3d | rs730720 |
GWAS Ctlg | rs730720 |
GMAF | 0.3595 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs730720(A;A) |
Alt | rs730720(A;A) |
Reference | Rs730720(G;G) |
Significance | Non-pathogenic |
Disease | Larsen syndrome Skeletal dysplasia Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations |
Variation | info |
Gene | CHST3 |
CLNDBN | Larsen syndrome Skeletal dysplasia Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations |
Reversed | 1 |
HGVS | NC_000010.10:g.73772762C>T |
CLNSRC | |
CLNACC | RCV000273915.1, RCV000331224.1, RCV000355694.1, RCV000370815.1, |