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rs375785084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375785084(C;T)
Make rs375785084(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41422176
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs375785084
ebirs375785084
HLIrs375785084
Exacrs375785084
Varsomers375785084
Maprs375785084
PheGenIrs375785084
hapmaprs375785084
1000 genomesrs375785084
hgdprs375785084
ensemblrs375785084
gopubmedrs375785084
geneviewrs375785084
scholarrs375785084
googlers375785084
pharmgkbrs375785084
gwascentralrs375785084
openSNPrs375785084
23andMers375785084
23andMe allrs375785084
SNP Nexus

SNPshotrs375785084
SNPdbers375785084
MSV3drs375785084
GWAS Ctlgrs375785084
Max Magnitude0
ClinVar
Risk rs375785084(T;T)
Alt rs375785084(T;T)
Reference rs375785084(C;C)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene BCKDHA
CLNDBN not provided Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41928081C>T
CLNSRC HGMD
CLNACC RCV000079249.3, RCV000179335.1,