rs121965002

Orientation

minus

Stabilized

minus

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

Make rs121965002(A;G)

Make rs121965002(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

100196349

Gene

DBT

is a	snp
is	mentioned by
dbSNP	rs121965002
dbSNP (classic)	rs121965002
ClinGen	rs121965002
ebi	rs121965002
HLI	rs121965002
Exac	rs121965002
Gnomad	rs121965002
Varsome	rs121965002
LitVar	rs121965002
Map	rs121965002
PheGenI	rs121965002
Biobank	rs121965002
1000 genomes	rs121965002
hgdp	rs121965002
ensembl	rs121965002
geneview	rs121965002
scholar	rs121965002
google	rs121965002
pharmgkb	rs121965002
gwascentral	rs121965002
openSNP	rs121965002
23andMe	rs121965002
SNPshot	rs121965002
SNPdbe	rs121965002
MSV3d	rs121965002
GWAS Ctlg	rs121965002

Max Magnitude

0

OMIM	248610
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121965002(G;G)
Alt	rs121965002(G;G)
Reference	Rs121965002(A;A)
Significance	Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	DBT
CLNDBN	Maple syrup urine disease, thiamine-responsive, type II
Reversed	1
HGVS	NC_000001.10:g.100661905T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012730.25,