rs12021720

a harmless snp

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0
(C;T)	0.05
(T;T)	0.1	rare genotype but harmless

Reference

GRCh38 38.1/141

Chromosome

1

Position

100206504

Gene

DBT

is a	snp
is	mentioned by
dbSNP	rs12021720
dbSNP (classic)	rs12021720
ClinGen	rs12021720
ebi	rs12021720
HLI	rs12021720
Exac	rs12021720
Gnomad	rs12021720
Varsome	rs12021720
LitVar	rs12021720
Map	rs12021720
PheGenI	rs12021720
Biobank	rs12021720
1000 genomes	rs12021720
hgdp	rs12021720
ensembl	rs12021720
geneview	rs12021720
scholar	rs12021720
google	rs12021720
pharmgkb	rs12021720
gwascentral	rs12021720
openSNP	rs12021720
23andMe	rs12021720
SNPshot	rs12021720
SNPdbe	rs12021720
MSV3d	rs12021720
GWAS Ctlg	rs12021720

Merged from

Rs17856511

GMAF

0.1015

Max Magnitude

0.1

?	(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

OMIM	248610
Desc
Variant	0008
Related	also

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,