rs796051939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs796051939(A;A) |
Make rs796051939(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 80273205 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs796051939 |
dbSNP (classic) | rs796051939 |
ClinGen | rs796051939 |
ebi | rs796051939 |
HLI | rs796051939 |
Exac | rs796051939 |
Gnomad | rs796051939 |
Varsome | rs796051939 |
LitVar | rs796051939 |
Map | rs796051939 |
PheGenI | rs796051939 |
Biobank | rs796051939 |
1000 genomes | rs796051939 |
hgdp | rs796051939 |
ensembl | rs796051939 |
geneview | rs796051939 |
scholar | rs796051939 |
rs796051939 | |
pharmgkb | rs796051939 |
gwascentral | rs796051939 |
openSNP | rs796051939 |
23andMe | rs796051939 |
SNPshot | rs796051939 |
SNPdbe | rs796051939 |
MSV3d | rs796051939 |
GWAS Ctlg | rs796051939 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051939(A;A) |
Alt | rs796051939(A;A) |
Reference | Rs796051939(T;T) |
Significance | Pathogenic |
Disease | not provided Maple syrup urine disease |
Variation | info |
Gene | BCKDHB |
CLNDBN | not provided Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000006.11:g.80982922T>A |
CLNSRC | |
CLNACC | RCV000185797.2, RCV000209023.1, |