rs121964999

Orientation

minus

Stabilized

minus

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

Make rs121964999(G;G)

Make rs121964999(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

100214929

Gene

DBT

is a	snp
is	mentioned by
dbSNP	rs121964999
dbSNP (classic)	rs121964999
ClinGen	rs121964999
ebi	rs121964999
HLI	rs121964999
Exac	rs121964999
Gnomad	rs121964999
Varsome	rs121964999
LitVar	rs121964999
Map	rs121964999
PheGenI	rs121964999
Biobank	rs121964999
1000 genomes	rs121964999
hgdp	rs121964999
ensembl	rs121964999
geneview	rs121964999
scholar	rs121964999
google	rs121964999
pharmgkb	rs121964999
gwascentral	rs121964999
openSNP	rs121964999
23andMe	rs121964999
SNPshot	rs121964999
SNPdbe	rs121964999
MSV3d	rs121964999
GWAS Ctlg	rs121964999

Max Magnitude

0

OMIM	248610
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121964999(G;G)
Alt	rs121964999(G;G)
Reference	Rs121964999(T;T)
Significance	Pathogenic
Disease	Maple syrup urine disease not provided Maple syrup urine disease
Variation	info
Gene	DBT
CLNDBN	Maple syrup urine disease, thiamine-responsive, type II not provided Maple syrup urine disease
Reversed	1
HGVS	NC_000001.10:g.100680485A>C
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000012721.23, RCV000079957.3, RCV000179835.1,