rs398122524
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122524(C;T) |
Make rs398122524(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 100011413 |
Gene | SLC35A3 |
is a | snp |
is | mentioned by |
dbSNP | rs398122524 |
dbSNP (classic) | rs398122524 |
ClinGen | rs398122524 |
ebi | rs398122524 |
HLI | rs398122524 |
Exac | rs398122524 |
Gnomad | rs398122524 |
Varsome | rs398122524 |
LitVar | rs398122524 |
Map | rs398122524 |
PheGenI | rs398122524 |
Biobank | rs398122524 |
1000 genomes | rs398122524 |
hgdp | rs398122524 |
ensembl | rs398122524 |
geneview | rs398122524 |
scholar | rs398122524 |
rs398122524 | |
pharmgkb | rs398122524 |
gwascentral | rs398122524 |
openSNP | rs398122524 |
23andMe | rs398122524 |
SNPshot | rs398122524 |
SNPdbe | rs398122524 |
MSV3d | rs398122524 |
GWAS Ctlg | rs398122524 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122524(T;T) |
Alt | rs398122524(T;T) |
Reference | Rs398122524(C;C) |
Significance | Pathogenic |
Disease | Arthrogryposis |
Variation | info |
Gene | SLC35A3 |
CLNDBN | Arthrogryposis, mental retardation, and seizures |
Reversed | 0 |
HGVS | NC_000001.10:g.100476969C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074503.4, |