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rs796052135

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796052135(A;G)
Make rs796052135(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position100207186
GeneDBT
is asnp
is mentioned by
dbSNPrs796052135
ebirs796052135
HLIrs796052135
Exacrs796052135
Varsomers796052135
Maprs796052135
PheGenIrs796052135
hapmaprs796052135
1000 genomesrs796052135
hgdprs796052135
ensemblrs796052135
gopubmedrs796052135
geneviewrs796052135
scholarrs796052135
googlers796052135
pharmgkbrs796052135
gwascentralrs796052135
openSNPrs796052135
23andMers796052135
23andMe allrs796052135
SNP Nexus

SNPshotrs796052135
SNPdbers796052135
MSV3drs796052135
GWAS Ctlgrs796052135
Max Magnitude0
ClinVar
Risk rs796052135(G;G)
Alt rs796052135(G;G)
Reference rs796052135(A;A)
Significance Pathogenic
Disease Intermediate maple syrup urine disease type 2
Variation info
Gene DBT
CLNDBN Intermediate maple syrup urine disease type 2
Reversed 1
HGVS NC_000001.10:g.100672742T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012724.17,