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rs371518124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs371518124(A;A)
Make rs371518124(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position80168906
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs371518124
ebirs371518124
HLIrs371518124
Exacrs371518124
Varsomers371518124
Maprs371518124
PheGenIrs371518124
hapmaprs371518124
1000 genomesrs371518124
hgdprs371518124
ensemblrs371518124
gopubmedrs371518124
geneviewrs371518124
scholarrs371518124
googlers371518124
pharmgkbrs371518124
gwascentralrs371518124
openSNPrs371518124
23andMers371518124
23andMe allrs371518124
SNP Nexus

SNPshotrs371518124
SNPdbers371518124
MSV3drs371518124
GWAS Ctlgrs371518124
Max Magnitude0
ClinVar
Risk rs371518124(A,C;A,C)
Alt rs371518124(A,C;A,C)
Reference rs371518124(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.80878623G>A; NC_000006.11:g.80878623G>C
CLNSRC HGMD
CLNACC RCV000082749.3, RCV000179047.1, RCV000082750.4,