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rs149766077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149766077(C;T)
Make rs149766077(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position80168944
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs149766077
ebirs149766077
HLIrs149766077
Exacrs149766077
Varsomers149766077
Maprs149766077
PheGenIrs149766077
hapmaprs149766077
1000 genomesrs149766077
hgdprs149766077
ensemblrs149766077
gopubmedrs149766077
geneviewrs149766077
scholarrs149766077
googlers149766077
pharmgkbrs149766077
gwascentralrs149766077
openSNPrs149766077
23andMers149766077
23andMe allrs149766077
SNP Nexus

SNPshotrs149766077
SNPdbers149766077
MSV3drs149766077
GWAS Ctlgrs149766077
Max Magnitude0
ClinVar
Risk rs149766077(G,T;G,T)
Alt rs149766077(G,T;G,T)
Reference rs149766077(C;C)
Significance Probable-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.80878661C>T
CLNSRC HGMD
CLNACC RCV000082753.3, RCV000179039.1,