Have questions? Visit https://www.reddit.com/r/SNPedia

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
ebirs12021720
HLIrs12021720
Exacrs12021720
Varsomers12021720
Maprs12021720
PheGenIrs12021720
hapmaprs12021720
1000 genomesrs12021720
hgdprs12021720
ensemblrs12021720
gopubmedrs12021720
geneviewrs12021720
scholarrs12021720
googlers12021720
pharmgkbrs12021720
gwascentralrs12021720
openSNPrs12021720
23andMers12021720
23andMe allrs12021720
SNP Nexus

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


Venter snp
Source plos
Gene DBT
allele C
frequency 0.924
sift TOLERATED
HuRef 1103675174830
Disease Association Defects in DBT are the cause of maple syrup urine disease type 2 (MSUD2) (MIM:248600). MSUD is an autosomal recessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine.



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,



GET Evidence
DBT-S384G
aa_change Ser384Gly
aa_change_short S384G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.858431
summary