rs398123663
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398123663(C;C) |
Make rs398123663(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 100196257 |
Gene | DBT |
is a | snp |
is | mentioned by |
dbSNP | rs398123663 |
dbSNP (classic) | rs398123663 |
ClinGen | rs398123663 |
ebi | rs398123663 |
HLI | rs398123663 |
Exac | rs398123663 |
Gnomad | rs398123663 |
Varsome | rs398123663 |
LitVar | rs398123663 |
Map | rs398123663 |
PheGenI | rs398123663 |
Biobank | rs398123663 |
1000 genomes | rs398123663 |
hgdp | rs398123663 |
ensembl | rs398123663 |
geneview | rs398123663 |
scholar | rs398123663 |
rs398123663 | |
pharmgkb | rs398123663 |
gwascentral | rs398123663 |
openSNP | rs398123663 |
23andMe | rs398123663 |
SNPshot | rs398123663 |
SNPdbe | rs398123663 |
MSV3d | rs398123663 |
GWAS Ctlg | rs398123663 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123663(C;C) |
Alt | rs398123663(C;C) |
Reference | Rs398123663(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided Maple syrup urine disease |
Variation | info |
Gene | DBT |
CLNDBN | not provided Maple syrup urine disease |
Reversed | 1 |
HGVS | NC_000001.10:g.100661813A>G |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000079937.3, RCV000174060.1, |