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rs776631396

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs776631396(C;T)
Make rs776631396(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position80167744
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs776631396
dbSNP (classic)rs776631396
ClinGenrs776631396
ebirs776631396
HLIrs776631396
Exacrs776631396
Gnomadrs776631396
Varsomers776631396
LitVarrs776631396
Maprs776631396
PheGenIrs776631396
Biobankrs776631396
1000 genomesrs776631396
hgdprs776631396
ensemblrs776631396
geneviewrs776631396
scholarrs776631396
googlers776631396
pharmgkbrs776631396
gwascentralrs776631396
openSNPrs776631396
23andMers776631396
SNPshotrs776631396
SNPdbers776631396
MSV3drs776631396
GWAS Ctlgrs776631396
Max Magnitude0
ClinVar
Risk rs776631396(T;T)
Alt rs776631396(T;T)
Reference Rs776631396(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.80877461C>T
CLNSRC
CLNACC RCV000410485.1,