rs1060499715
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060499715(A;A) |
Make rs1060499715(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 80343715 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs1060499715 |
dbSNP (classic) | rs1060499715 |
ClinGen | rs1060499715 |
ebi | rs1060499715 |
HLI | rs1060499715 |
Exac | rs1060499715 |
Gnomad | rs1060499715 |
Varsome | rs1060499715 |
LitVar | rs1060499715 |
Map | rs1060499715 |
PheGenI | rs1060499715 |
Biobank | rs1060499715 |
1000 genomes | rs1060499715 |
hgdp | rs1060499715 |
ensembl | rs1060499715 |
geneview | rs1060499715 |
scholar | rs1060499715 |
rs1060499715 | |
pharmgkb | rs1060499715 |
gwascentral | rs1060499715 |
openSNP | rs1060499715 |
23andMe | rs1060499715 |
SNPshot | rs1060499715 |
SNPdbe | rs1060499715 |
MSV3d | rs1060499715 |
GWAS Ctlg | rs1060499715 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499715(A;A) |
Alt | rs1060499715(A;A) |
Reference | Rs1060499715(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.81053432G>A |
CLNSRC | |
CLNACC | RCV000449516.1, |