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

rs1057516572

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516572(-;-)
Make rs1057516572(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position80171378
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs1057516572
dbSNP (old)rs1057516572
ClinGenrs1057516572
ebirs1057516572
HLIrs1057516572
Exacrs1057516572
Gnomadrs1057516572
Varsomers1057516572
Maprs1057516572
PheGenIrs1057516572
Biobankrs1057516572
1000 genomesrs1057516572
hgdprs1057516572
ensemblrs1057516572
gopubmedrs1057516572
geneviewrs1057516572
scholarrs1057516572
googlers1057516572
pharmgkbrs1057516572
gwascentralrs1057516572
openSNPrs1057516572
23andMers1057516572
23andMe allrs1057516572
SNPshotrs1057516572
SNPdbers1057516572
MSV3drs1057516572
GWAS Ctlgrs1057516572
Max Magnitude0
ClinVar
Risk rs1057516572(-;-)
Alt rs1057516572(-;-)
Reference Rs1057516572(T;T)
Significance Probable-Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80881095delT
CLNSRC
CLNACC RCV000411844.1,