rs121965003

Orientation

minus

Stabilized

minus

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

Make rs121965003(C;G)

Make rs121965003(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

100216174

Gene

DBT

is a	snp
is	mentioned by
dbSNP	rs121965003
dbSNP (classic)	rs121965003
ClinGen	rs121965003
ebi	rs121965003
HLI	rs121965003
Exac	rs121965003
Gnomad	rs121965003
Varsome	rs121965003
LitVar	rs121965003
Map	rs121965003
PheGenI	rs121965003
Biobank	rs121965003
1000 genomes	rs121965003
hgdp	rs121965003
ensembl	rs121965003
geneview	rs121965003
scholar	rs121965003
google	rs121965003
pharmgkb	rs121965003
gwascentral	rs121965003
openSNP	rs121965003
23andMe	rs121965003
SNPshot	rs121965003
SNPdbe	rs121965003
MSV3d	rs121965003
GWAS Ctlg	rs121965003

Max Magnitude

0

OMIM	248610
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121965003(G;G)
Alt	rs121965003(G;G)
Reference	Rs121965003(C;C)
Significance	Pathogenic
Disease	Maple syrup urine disease type 2
Variation	info
Gene	DBT
CLNDBN	Maple syrup urine disease type 2
Reversed	1
HGVS	NC_000001.10:g.100681730G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012731.17,