rs4148945
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs4148945(C;T) |
Make rs4148945(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 72009832 |
Gene | CHST3 |
is a | snp |
is | mentioned by |
dbSNP | rs4148945 |
dbSNP (classic) | rs4148945 |
ClinGen | rs4148945 |
ebi | rs4148945 |
HLI | rs4148945 |
Exac | rs4148945 |
Gnomad | rs4148945 |
Varsome | rs4148945 |
LitVar | rs4148945 |
Map | rs4148945 |
PheGenI | rs4148945 |
Biobank | rs4148945 |
1000 genomes | rs4148945 |
hgdp | rs4148945 |
ensembl | rs4148945 |
geneview | rs4148945 |
scholar | rs4148945 |
rs4148945 | |
pharmgkb | rs4148945 |
gwascentral | rs4148945 |
openSNP | rs4148945 |
23andMe | rs4148945 |
SNPshot | rs4148945 |
SNPdbe | rs4148945 |
MSV3d | rs4148945 |
GWAS Ctlg | rs4148945 |
GMAF | 0.2686 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs4148945(T;T) |
Alt | rs4148945(T;T) |
Reference | Rs4148945(C;C) |
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 | 0 |
HGVS | NC_000010.10:g.73769590C>T |
CLNSRC | |
CLNACC | RCV000302848.1, RCV000303933.1, RCV000339038.1, RCV000401659.1, |