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rs12021720

From SNPedia

a harmless snp
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(C;T) 0.05
(T;T) 0.1 rare genotype but harmless
ReferenceGRCh38 38.1/141
Chromosome1
Position100206504
GeneDBT
is asnp
is mentioned by
dbSNPrs12021720
dbSNP (classic)rs12021720
ClinGenrs12021720
ebirs12021720
HLIrs12021720
Exacrs12021720
Gnomadrs12021720
Varsomers12021720
LitVarrs12021720
Maprs12021720
PheGenIrs12021720
Biobankrs12021720
1000 genomesrs12021720
hgdprs12021720
ensemblrs12021720
geneviewrs12021720
scholarrs12021720
googlers12021720
pharmgkbrs12021720
gwascentralrs12021720
openSNPrs12021720
23andMers12021720
23andMe allrs12021720
SNPshotrs12021720
SNPdbers12021720
MSV3drs12021720
GWAS Ctlgrs12021720
Merged fromRs17856511
GMAF0.1015
Max Magnitude0.1
? (C;C) (C;T) (T;T) 28

Two SNPedia users have self reported the (T;T) genotype with no apparent consequences. It was first noted in a patient with documented in omim. A Japanese patient with the intermediate form of maple syrup urine disease 2 [PMID 9621512] showed a compound heterozygote for both

  • the apparently causative C->G transversion at nucleotide 309 DBT gene (I37M)
  • this G->A transition in exon 9 (G323S) which with no obvious consequences


OMIM248610
Desc
Variant0008
Relatedalso


ClinVar
Risk Rs12021720(C;C)
Alt Rs12021720(C;C)
Reference Rs12021720(T;T)
Significance Other
Disease Intermediate maple syrup urine disease type 2 not specified
Variation info
Gene DBT
CLNDBN Intermediate maple syrup urine disease type 2 not specified
Reversed 0
HGVS NC_000001.10:g.100672060T\x3d; NC_000001.10:g.100672060T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012727.23, RCV000116865.5,