rs760538465
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs760538465(A;A) |
Make rs760538465(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 80201032 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs760538465 |
dbSNP (classic) | rs760538465 |
ClinGen | rs760538465 |
ebi | rs760538465 |
HLI | rs760538465 |
Exac | rs760538465 |
Gnomad | rs760538465 |
Varsome | rs760538465 |
LitVar | rs760538465 |
Map | rs760538465 |
PheGenI | rs760538465 |
Biobank | rs760538465 |
1000 genomes | rs760538465 |
hgdp | rs760538465 |
ensembl | rs760538465 |
geneview | rs760538465 |
scholar | rs760538465 |
rs760538465 | |
pharmgkb | rs760538465 |
gwascentral | rs760538465 |
openSNP | rs760538465 |
23andMe | rs760538465 |
SNPshot | rs760538465 |
SNPdbe | rs760538465 |
MSV3d | rs760538465 |
GWAS Ctlg | rs760538465 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760538465(A;A) rs760538465(T;T) |
Alt | rs760538465(A;A) rs760538465(T;T) |
Reference | Rs760538465(G;G) |
Significance | Probable-Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | BCKDHB |
CLNDBN | Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000006.11:g.80910749G>A; NC_000006.11:g.80910749G>T |
CLNSRC | |
CLNACC | RCV000411423.1, RCV000411637.1, |