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

rs398123512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123512(-;-)
Make rs398123512(-;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422692
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs398123512
ebirs398123512
HLIrs398123512
Exacrs398123512
Varsomers398123512
Maprs398123512
PheGenIrs398123512
hapmaprs398123512
1000 genomesrs398123512
hgdprs398123512
ensemblrs398123512
gopubmedrs398123512
geneviewrs398123512
scholarrs398123512
googlers398123512
pharmgkbrs398123512
gwascentralrs398123512
openSNPrs398123512
23andMers398123512
23andMe allrs398123512
SNP Nexus

SNPshotrs398123512
SNPdbers398123512
MSV3drs398123512
GWAS Ctlgrs398123512
Max Magnitude0
ClinVar
Risk rs398123512(;)
Alt rs398123512(;)
Reference rs398123512(T;T)
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.41928597delT
CLNSRC ClinVar
CLNACC RCV000079263.3, RCV000179778.1,