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rs869312132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312132(A;A)
Make rs869312132(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position100206621
GeneDBT
is asnp
is mentioned by
dbSNPrs869312132
dbSNP (classic)rs869312132
ClinGenrs869312132
ebirs869312132
HLIrs869312132
Exacrs869312132
Gnomadrs869312132
Varsomers869312132
LitVarrs869312132
Maprs869312132
PheGenIrs869312132
Biobankrs869312132
1000 genomesrs869312132
hgdprs869312132
ensemblrs869312132
geneviewrs869312132
scholarrs869312132
googlers869312132
pharmgkbrs869312132
gwascentralrs869312132
openSNPrs869312132
23andMers869312132
SNPshotrs869312132
SNPdbers869312132
MSV3drs869312132
GWAS Ctlgrs869312132
Max Magnitude0
ClinVar
Risk rs869312132(A;A)
Alt rs869312132(A;A)
Reference Rs869312132(G;G)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene DBT
CLNDBN Maple syrup urine disease
Reversed 1
HGVS NC_000001.10:g.100672177C>T
CLNSRC
CLNACC RCV000209922.1,