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rs398124574

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124574(A;A)
Make rs398124574(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position80167677
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124574
dbSNP (classic)rs398124574
ClinGenrs398124574
ebirs398124574
HLIrs398124574
Exacrs398124574
Gnomadrs398124574
Varsomers398124574
LitVarrs398124574
Maprs398124574
PheGenIrs398124574
Biobankrs398124574
1000 genomesrs398124574
hgdprs398124574
ensemblrs398124574
geneviewrs398124574
scholarrs398124574
googlers398124574
pharmgkbrs398124574
gwascentralrs398124574
openSNPrs398124574
23andMers398124574
SNPshotrs398124574
SNPdbers398124574
MSV3drs398124574
GWAS Ctlgrs398124574
Max Magnitude0
ClinVar
Risk rs398124574(A;A)
Alt rs398124574(A;A)
Reference Rs398124574(G;G)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN not provided Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80877394G>A
CLNSRC ClinVar
CLNACC RCV000082738.3, RCV000178407.1,