rs113994161

Orientation

minus

Stabilized

minus

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

Make rs113994161(A;A)

Make rs113994161(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

47988540

Gene

SUCLA2

is a	snp
is	mentioned by
dbSNP	rs113994161
dbSNP (classic)	rs113994161
ClinGen	rs113994161
ebi	rs113994161
HLI	rs113994161
Exac	rs113994161
Gnomad	rs113994161
Varsome	rs113994161
LitVar	rs113994161
Map	rs113994161
PheGenI	rs113994161
Biobank	rs113994161
1000 genomes	rs113994161
hgdp	rs113994161
ensembl	rs113994161
geneview	rs113994161
scholar	rs113994161
google	rs113994161
pharmgkb	rs113994161
gwascentral	rs113994161
openSNP	rs113994161
23andMe	rs113994161
SNPshot	rs113994161
SNPdbe	rs113994161
MSV3d	rs113994161
GWAS Ctlg	rs113994161

Max Magnitude

0

OMIM	603921
Desc
Variant	0002
Related	also

ClinVar
Risk	rs113994161(A;A)
Alt	rs113994161(A;A)
Reference	Rs113994161(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Variation	info
Gene	SUCLA2
CLNDBN	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Reversed	1
HGVS	NC_000013.10:g.48562675C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000020560.3,