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

rs398123492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
(CA;CA) 0 common in clinvar
Make rs398123492(-;-)
Make rs398123492(-;AC)
ReferenceGRCh38 38.1/141
Chromosome19
Position41424580
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123492
ebirs398123492
HLIrs398123492
Exacrs398123492
Varsomers398123492
Maprs398123492
PheGenIrs398123492
hapmaprs398123492
1000 genomesrs398123492
hgdprs398123492
ensemblrs398123492
gopubmedrs398123492
geneviewrs398123492
scholarrs398123492
googlers398123492
pharmgkbrs398123492
gwascentralrs398123492
openSNPrs398123492
23andMers398123492
23andMe allrs398123492
SNP Nexus

SNPshotrs398123492
SNPdbers398123492
MSV3drs398123492
GWAS Ctlgrs398123492
Max Magnitude0
ClinVar
Risk rs398123492(;)
Alt rs398123492(;)
Reference rs398123492(CA;CA)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN not provided Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41930485_41930486delAC
CLNSRC ClinVar
CLNACC RCV000079228.3, RCV000180523.1,