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

rs1057516731

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516731(-;-)
Make rs1057516731(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position80106790
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs1057516731
dbSNP (old)rs1057516731
ClinGenrs1057516731
ebirs1057516731
HLIrs1057516731
Exacrs1057516731
Gnomadrs1057516731
Varsomers1057516731
Maprs1057516731
PheGenIrs1057516731
Biobankrs1057516731
1000 genomesrs1057516731
hgdprs1057516731
ensemblrs1057516731
gopubmedrs1057516731
geneviewrs1057516731
scholarrs1057516731
googlers1057516731
pharmgkbrs1057516731
gwascentralrs1057516731
openSNPrs1057516731
23andMers1057516731
23andMe allrs1057516731
SNPshotrs1057516731
SNPdbers1057516731
MSV3drs1057516731
GWAS Ctlgrs1057516731
Max Magnitude0
ClinVar
Risk rs1057516731(-;-)
Alt rs1057516731(-;-)
Reference Rs1057516731(C;C)
Significance Probable-Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80816507delC
CLNSRC
CLNACC RCV000409161.1,