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rs137852871

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852871(A;A)
Make rs137852871(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422643
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs137852871
ebirs137852871
HLIrs137852871
Exacrs137852871
Varsomers137852871
Maprs137852871
PheGenIrs137852871
hapmaprs137852871
1000 genomesrs137852871
hgdprs137852871
ensemblrs137852871
gopubmedrs137852871
geneviewrs137852871
scholarrs137852871
googlers137852871
pharmgkbrs137852871
gwascentralrs137852871
openSNPrs137852871
23andMers137852871
23andMe allrs137852871
SNP Nexus

SNPshotrs137852871
SNPdbers137852871
MSV3drs137852871
GWAS Ctlgrs137852871
Max Magnitude0
OMIM608348
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852871(A,C;A,C)
Alt rs137852871(A,C;A,C)
Reference rs137852871(G;G)
Significance Pathogenic
Disease MAPLE SYRUP URINE DISEASE not provided Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA not provided Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41928548G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002475.2, RCV000079258.3, RCV000179775.2,