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rs182923857

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs182923857(C;T)
Make rs182923857(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position41423038
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs182923857
ebirs182923857
HLIrs182923857
Exacrs182923857
Varsomers182923857
Maprs182923857
PheGenIrs182923857
hapmaprs182923857
1000 genomesrs182923857
hgdprs182923857
ensemblrs182923857
gopubmedrs182923857
geneviewrs182923857
scholarrs182923857
googlers182923857
pharmgkbrs182923857
gwascentralrs182923857
openSNPrs182923857
23andMers182923857
23andMe allrs182923857
SNP Nexus

SNPshotrs182923857
SNPdbers182923857
MSV3drs182923857
GWAS Ctlgrs182923857
Max Magnitude0
ClinVar
Risk rs182923857(T;T)
Alt rs182923857(T;T)
Reference rs182923857(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.41928943C>T
CLNSRC HGMD
CLNACC RCV000079216.3, RCV000180181.1,