rs398123675
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398123675(C;T) |
Make rs398123675(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 100214885 |
Gene | DBT |
is a | snp |
is | mentioned by |
dbSNP | rs398123675 |
dbSNP (classic) | rs398123675 |
ClinGen | rs398123675 |
ebi | rs398123675 |
HLI | rs398123675 |
Exac | rs398123675 |
Gnomad | rs398123675 |
Varsome | rs398123675 |
LitVar | rs398123675 |
Map | rs398123675 |
PheGenI | rs398123675 |
Biobank | rs398123675 |
1000 genomes | rs398123675 |
hgdp | rs398123675 |
ensembl | rs398123675 |
geneview | rs398123675 |
scholar | rs398123675 |
rs398123675 | |
pharmgkb | rs398123675 |
gwascentral | rs398123675 |
openSNP | rs398123675 |
23andMe | rs398123675 |
SNPshot | rs398123675 |
SNPdbe | rs398123675 |
MSV3d | rs398123675 |
GWAS Ctlg | rs398123675 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123675(T;T) |
Alt | rs398123675(T;T) |
Reference | Rs398123675(C;C) |
Significance | 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.100680441G>A |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000079958.3, RCV000179837.1, |