rs398124587
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs398124587(-;-) |
Make rs398124587(-;AG) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 80168992 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs398124587 |
dbSNP (classic) | rs398124587 |
ClinGen | rs398124587 |
ebi | rs398124587 |
HLI | rs398124587 |
Exac | rs398124587 |
Gnomad | rs398124587 |
Varsome | rs398124587 |
LitVar | rs398124587 |
Map | rs398124587 |
PheGenI | rs398124587 |
Biobank | rs398124587 |
1000 genomes | rs398124587 |
hgdp | rs398124587 |
ensembl | rs398124587 |
geneview | rs398124587 |
scholar | rs398124587 |
rs398124587 | |
pharmgkb | rs398124587 |
gwascentral | rs398124587 |
openSNP | rs398124587 |
23andMe | rs398124587 |
SNPshot | rs398124587 |
SNPdbe | rs398124587 |
MSV3d | rs398124587 |
GWAS Ctlg | rs398124587 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124587(-;-) |
Alt | rs398124587(-;-) |
Reference | Rs398124587(AG;AG) |
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.80878709_80878710delAG |
CLNSRC | HGMD |
CLNACC | RCV000082758.3, RCV000179041.1, |