rs121965001

Orientation

minus

Stabilized

minus

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

Make rs121965001(C;G)

Make rs121965001(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

100230872

Gene

DBT

is a	snp
is	mentioned by
dbSNP	rs121965001
dbSNP (classic)	rs121965001
ClinGen	rs121965001
ebi	rs121965001
HLI	rs121965001
Exac	rs121965001
Gnomad	rs121965001
Varsome	rs121965001
LitVar	rs121965001
Map	rs121965001
PheGenI	rs121965001
Biobank	rs121965001
1000 genomes	rs121965001
hgdp	rs121965001
ensembl	rs121965001
geneview	rs121965001
scholar	rs121965001
google	rs121965001
pharmgkb	rs121965001
gwascentral	rs121965001
openSNP	rs121965001
23andMe	rs121965001
SNPshot	rs121965001
SNPdbe	rs121965001
MSV3d	rs121965001
GWAS Ctlg	rs121965001

Max Magnitude

0

OMIM	248610
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121965001(G;G)
Alt	rs121965001(G;G)
Reference	Rs121965001(C;C)
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.100696428G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012726.23,