rs794727262
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs794727262(G;G) |
Make rs794727262(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 100240810 |
Gene | DBT |
is a | snp |
is | mentioned by |
dbSNP | rs794727262 |
dbSNP (classic) | rs794727262 |
ClinGen | rs794727262 |
ebi | rs794727262 |
HLI | rs794727262 |
Exac | rs794727262 |
Gnomad | rs794727262 |
Varsome | rs794727262 |
LitVar | rs794727262 |
Map | rs794727262 |
PheGenI | rs794727262 |
Biobank | rs794727262 |
1000 genomes | rs794727262 |
hgdp | rs794727262 |
ensembl | rs794727262 |
geneview | rs794727262 |
scholar | rs794727262 |
rs794727262 | |
pharmgkb | rs794727262 |
gwascentral | rs794727262 |
openSNP | rs794727262 |
23andMe | rs794727262 |
SNPshot | rs794727262 |
SNPdbe | rs794727262 |
MSV3d | rs794727262 |
GWAS Ctlg | rs794727262 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727262(G;G) |
Alt | rs794727262(G;G) |
Reference | Rs794727262(T;T) |
Significance | Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | DBT |
CLNDBN | Maple syrup urine disease |
Reversed | 1 |
HGVS | NC_000001.10:g.100706366A>C |
CLNSRC | |
CLNACC | RCV000175709.1, |