rs768832921
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs768832921(-;-) |
Make rs768832921(-;AT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 100240860 |
Gene | DBT |
is a | snp |
is | mentioned by |
dbSNP | rs768832921 |
dbSNP (classic) | rs768832921 |
ClinGen | rs768832921 |
ebi | rs768832921 |
HLI | rs768832921 |
Exac | rs768832921 |
Gnomad | rs768832921 |
Varsome | rs768832921 |
LitVar | rs768832921 |
Map | rs768832921 |
PheGenI | rs768832921 |
Biobank | rs768832921 |
1000 genomes | rs768832921 |
hgdp | rs768832921 |
ensembl | rs768832921 |
geneview | rs768832921 |
scholar | rs768832921 |
rs768832921 | |
pharmgkb | rs768832921 |
gwascentral | rs768832921 |
openSNP | rs768832921 |
23andMe | rs768832921 |
SNPshot | rs768832921 |
SNPdbe | rs768832921 |
MSV3d | rs768832921 |
GWAS Ctlg | rs768832921 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768832921(-;-) |
Alt | rs768832921(-;-) |
Reference | Rs768832921(AT;AT) |
Significance | Pathogenic |
Disease | Maple syrup urine disease type 2 |
Variation | info |
Gene | DBT |
CLNDBN | Maple syrup urine disease type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.100706416_100706417delAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012728.24, |