rs796052134
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs796052134(-;-) |
Make rs796052134(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 100210693 |
Gene | DBT |
is a | snp |
is | mentioned by |
dbSNP | rs796052134 |
dbSNP (classic) | rs796052134 |
ClinGen | rs796052134 |
ebi | rs796052134 |
HLI | rs796052134 |
Exac | rs796052134 |
Gnomad | rs796052134 |
Varsome | rs796052134 |
LitVar | rs796052134 |
Map | rs796052134 |
PheGenI | rs796052134 |
Biobank | rs796052134 |
1000 genomes | rs796052134 |
hgdp | rs796052134 |
ensembl | rs796052134 |
geneview | rs796052134 |
scholar | rs796052134 |
rs796052134 | |
pharmgkb | rs796052134 |
gwascentral | rs796052134 |
openSNP | rs796052134 |
23andMe | rs796052134 |
SNPshot | rs796052134 |
SNPdbe | rs796052134 |
MSV3d | rs796052134 |
GWAS Ctlg | rs796052134 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052134(-;-) |
Alt | rs796052134(-;-) |
Reference | Rs796052134(G;G) |
Significance | Pathogenic |
Disease | Maple syrup urine disease type 2 |
Variation | info |
Gene | DBT |
CLNDBN | Maple syrup urine disease type 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.100676249delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012723.25, |