rs397515462

Orientation

minus

Stabilized

minus

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

Make rs397515462(A;A)

Make rs397515462(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

47968646

Gene

SUCLA2

is a	snp
is	mentioned by
dbSNP	rs397515462
dbSNP (classic)	rs397515462
ClinGen	rs397515462
ebi	rs397515462
HLI	rs397515462
Exac	rs397515462
Gnomad	rs397515462
Varsome	rs397515462
LitVar	rs397515462
Map	rs397515462
PheGenI	rs397515462
Biobank	rs397515462
1000 genomes	rs397515462
hgdp	rs397515462
ensembl	rs397515462
geneview	rs397515462
scholar	rs397515462
google	rs397515462
pharmgkb	rs397515462
gwascentral	rs397515462
openSNP	rs397515462
23andMe	rs397515462
SNPshot	rs397515462
SNPdbe	rs397515462
MSV3d	rs397515462
GWAS Ctlg	rs397515462

Max Magnitude

0

ClinVar
Risk	rs397515462(A;A)
Alt	rs397515462(A;A)
Reference	Rs397515462(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.48542781C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056273.2,