Have questions? Visit https://www.reddit.com/r/SNPedia

rs869312124

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312124(C;C)
Make rs869312124(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41422361
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs869312124
ebirs869312124
HLIrs869312124
Exacrs869312124
Varsomers869312124
Maprs869312124
PheGenIrs869312124
hapmaprs869312124
1000 genomesrs869312124
hgdprs869312124
ensemblrs869312124
gopubmedrs869312124
geneviewrs869312124
scholarrs869312124
googlers869312124
pharmgkbrs869312124
gwascentralrs869312124
openSNPrs869312124
23andMers869312124
23andMe allrs869312124
SNP Nexus

SNPshotrs869312124
SNPdbers869312124
MSV3drs869312124
GWAS Ctlgrs869312124
Max Magnitude0
ClinVar
Risk rs869312124(C;C)
Alt rs869312124(C;C)
Reference rs869312124(G;G)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41928266G>C
CLNSRC
CLNACC RCV000209700.1,