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rs760538465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs760538465(A;A)
Make rs760538465(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position80201032
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs760538465
dbSNP (classic)rs760538465
ClinGenrs760538465
ebirs760538465
HLIrs760538465
Exacrs760538465
Gnomadrs760538465
Varsomers760538465
LitVarrs760538465
Maprs760538465
PheGenIrs760538465
Biobankrs760538465
1000 genomesrs760538465
hgdprs760538465
ensemblrs760538465
geneviewrs760538465
scholarrs760538465
googlers760538465
pharmgkbrs760538465
gwascentralrs760538465
openSNPrs760538465
23andMers760538465
SNPshotrs760538465
SNPdbers760538465
MSV3drs760538465
GWAS Ctlgrs760538465
Max Magnitude0
ClinVar
Risk rs760538465(A;A) rs760538465(T;T)
Alt rs760538465(A;A) rs760538465(T;T)
Reference Rs760538465(G;G)
Significance Probable-Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80910749G>A; NC_000006.11:g.80910749G>T
CLNSRC
CLNACC RCV000411423.1, RCV000411637.1,