rs121964991

Orientation

plus

Stabilized

plus

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

Make rs121964991(C;C)

Make rs121964991(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107917404

Gene

DLD

is a	snp
is	mentioned by
dbSNP	rs121964991
dbSNP (classic)	rs121964991
ClinGen	rs121964991
ebi	rs121964991
HLI	rs121964991
Exac	rs121964991
Gnomad	rs121964991
Varsome	rs121964991
LitVar	rs121964991
Map	rs121964991
PheGenI	rs121964991
Biobank	rs121964991
1000 genomes	rs121964991
hgdp	rs121964991
ensembl	rs121964991
geneview	rs121964991
scholar	rs121964991
google	rs121964991
pharmgkb	rs121964991
gwascentral	rs121964991
openSNP	rs121964991
23andMe	rs121964991
SNPshot	rs121964991
SNPdbe	rs121964991
MSV3d	rs121964991
GWAS Ctlg	rs121964991

Max Magnitude

0

OMIM	238331
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121964991(C;C)
Alt	rs121964991(C;C)
Reference	Rs121964991(T;T)
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.107557849T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012747.18,