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

rs137852873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852873(C;T)
Make rs137852873(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422310
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs137852873
ebirs137852873
HLIrs137852873
Exacrs137852873
Varsomers137852873
Maprs137852873
PheGenIrs137852873
hapmaprs137852873
1000 genomesrs137852873
hgdprs137852873
ensemblrs137852873
gopubmedrs137852873
geneviewrs137852873
scholarrs137852873
googlers137852873
pharmgkbrs137852873
gwascentralrs137852873
openSNPrs137852873
23andMers137852873
23andMe allrs137852873
SNP Nexus

SNPshotrs137852873
SNPdbers137852873
MSV3drs137852873
GWAS Ctlgrs137852873
Max Magnitude0
OMIM608348
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852873(T;T)
Alt rs137852873(T;T)
Reference rs137852873(C;C)
Significance Pathogenic
Disease Maple syrup urine disease type 1A
Variation info
Gene BCKDHA
CLNDBN Maple syrup urine disease type 1A
Reversed 0
HGVS NC_000019.9:g.41928215C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002478.2,