rs121964993

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III)

Make rs121964993(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107917307

Gene

DLD

is a	snp
is	mentioned by
dbSNP	rs121964993
dbSNP (classic)	rs121964993
ClinGen	rs121964993
ebi	rs121964993
HLI	rs121964993
Exac	rs121964993
Gnomad	rs121964993
Varsome	rs121964993
LitVar	rs121964993
Map	rs121964993
PheGenI	rs121964993
Biobank	rs121964993
1000 genomes	rs121964993
hgdp	rs121964993
ensembl	rs121964993
geneview	rs121964993
scholar	rs121964993
google	rs121964993
pharmgkb	rs121964993
gwascentral	rs121964993
openSNP	rs121964993
23andMe	rs121964993
SNPshot	rs121964993
SNPdbe	rs121964993
MSV3d	rs121964993
GWAS Ctlg	rs121964993

Max Magnitude

3

aka c.1081A>G (p.Met361Val or M361V)

OMIM	238331
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121964993(G;G)
Alt	rs121964993(G;G)
Reference	Rs121964993(A;A)
Significance	Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	DLD
CLNDBN	Maple syrup urine disease, type 3
Reversed	0
HGVS	NC_000007.13:g.107557752A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012752.23,