rs121965000

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121965000(G;T)

Make rs121965000(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

100196256

Gene

DBT

is a	snp
is	mentioned by
dbSNP	rs121965000
dbSNP (classic)	rs121965000
ClinGen	rs121965000
ebi	rs121965000
HLI	rs121965000
Exac	rs121965000
Gnomad	rs121965000
Varsome	rs121965000
LitVar	rs121965000
Map	rs121965000
PheGenI	rs121965000
Biobank	rs121965000
1000 genomes	rs121965000
hgdp	rs121965000
ensembl	rs121965000
geneview	rs121965000
scholar	rs121965000
google	rs121965000
pharmgkb	rs121965000
gwascentral	rs121965000
openSNP	rs121965000
23andMe	rs121965000
SNPshot	rs121965000
SNPdbe	rs121965000
MSV3d	rs121965000
GWAS Ctlg	rs121965000

Max Magnitude

0

OMIM	248610
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121965000(T;T)
Alt	rs121965000(T;T)
Reference	Rs121965000(G;G)
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.100661812C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012725.17,