rs747171013
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs747171013(G;T) |
Make rs747171013(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 72008094 |
Gene | CHST3 |
is a | snp |
is | mentioned by |
dbSNP | rs747171013 |
dbSNP (classic) | rs747171013 |
ClinGen | rs747171013 |
ebi | rs747171013 |
HLI | rs747171013 |
Exac | rs747171013 |
Gnomad | rs747171013 |
Varsome | rs747171013 |
LitVar | rs747171013 |
Map | rs747171013 |
PheGenI | rs747171013 |
Biobank | rs747171013 |
1000 genomes | rs747171013 |
hgdp | rs747171013 |
ensembl | rs747171013 |
geneview | rs747171013 |
scholar | rs747171013 |
rs747171013 | |
pharmgkb | rs747171013 |
gwascentral | rs747171013 |
openSNP | rs747171013 |
23andMe | rs747171013 |
SNPshot | rs747171013 |
SNPdbe | rs747171013 |
MSV3d | rs747171013 |
GWAS Ctlg | rs747171013 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747171013(A;A) rs747171013(T;T) |
Alt | rs747171013(A;A) rs747171013(T;T) |
Reference | Rs747171013(G;G) |
Significance | Pathogenic |
Disease | Spondyloepiphyseal dysplasia with congenital joint dislocations |
Variation | info |
Gene | CHST3 |
CLNDBN | Spondyloepiphyseal dysplasia with congenital joint dislocations |
Reversed | 0 |
HGVS | NC_000010.10:g.73767852G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210956.1, |