rs121913039

Orientation

minus

Stabilized

minus

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

Make rs121913039(A;A)

Make rs121913039(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50527612

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs121913039
dbSNP (classic)	rs121913039
ClinGen	rs121913039
ebi	rs121913039
HLI	rs121913039
Exac	rs121913039
Gnomad	rs121913039
Varsome	rs121913039
LitVar	rs121913039
Map	rs121913039
PheGenI	rs121913039
Biobank	rs121913039
1000 genomes	rs121913039
hgdp	rs121913039
ensembl	rs121913039
geneview	rs121913039
scholar	rs121913039
google	rs121913039
pharmgkb	rs121913039
gwascentral	rs121913039
openSNP	rs121913039
23andMe	rs121913039
SNPshot	rs121913039
SNPdbe	rs121913039
MSV3d	rs121913039
GWAS Ctlg	rs121913039

GMAF

0.0004591

Max Magnitude

0

OMIM	131222
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121913039(A;A)
Alt	rs121913039(A;A)
Reference	Rs121913039(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 1 (MNGIE type) not provided
Variation	info
Gene	SCO2 TYMP
CLNDBN	Mitochondrial DNA depletion syndrome 1 (MNGIE type) not provided
Reversed	1
HGVS	NC_000022.10:g.50966041C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018143.24, RCV000199543.3,