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rs796052134

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796052134(-;-)
Make rs796052134(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position100210693
GeneDBT
is asnp
is mentioned by
dbSNPrs796052134
ebirs796052134
HLIrs796052134
Exacrs796052134
Varsomers796052134
Maprs796052134
PheGenIrs796052134
hapmaprs796052134
1000 genomesrs796052134
hgdprs796052134
ensemblrs796052134
gopubmedrs796052134
geneviewrs796052134
scholarrs796052134
googlers796052134
pharmgkbrs796052134
gwascentralrs796052134
openSNPrs796052134
23andMers796052134
23andMe allrs796052134
SNP Nexus

SNPshotrs796052134
SNPdbers796052134
MSV3drs796052134
GWAS Ctlgrs796052134
Max Magnitude0
ClinVar
Risk rs796052134(;)
Alt rs796052134(;)
Reference rs796052134(G;G)
Significance Pathogenic
Disease Maple syrup urine disease type 2
Variation info
Gene DBT
CLNDBN Maple syrup urine disease type 2
Reversed 1
HGVS NC_000001.10:g.100676249delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012723.25,