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rs1057516799

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516799(G;T)
Make rs1057516799(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position80168884
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs1057516799
dbSNP (old)rs1057516799
ClinGenrs1057516799
ebirs1057516799
HLIrs1057516799
Exacrs1057516799
Gnomadrs1057516799
Varsomers1057516799
LitVarrs1057516799
Maprs1057516799
PheGenIrs1057516799
Biobankrs1057516799
1000 genomesrs1057516799
hgdprs1057516799
ensemblrs1057516799
gopubmedrs1057516799
geneviewrs1057516799
scholarrs1057516799
googlers1057516799
pharmgkbrs1057516799
gwascentralrs1057516799
openSNPrs1057516799
23andMers1057516799
23andMe allrs1057516799
SNPshotrs1057516799
SNPdbers1057516799
MSV3drs1057516799
GWAS Ctlgrs1057516799
Max Magnitude0
ClinVar
Risk rs1057516799(T;T)
Alt rs1057516799(T;T)
Reference Rs1057516799(G;G)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80878601G>T
CLNSRC
CLNACC RCV000409047.1,