rs121913041

Orientation

minus

Stabilized

minus

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

Make rs121913041(C;C)

Make rs121913041(C;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50527629

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs121913041
dbSNP (classic)	rs121913041
ClinGen	rs121913041
ebi	rs121913041
HLI	rs121913041
Exac	rs121913041
Gnomad	rs121913041
Varsome	rs121913041
LitVar	rs121913041
Map	rs121913041
PheGenI	rs121913041
Biobank	rs121913041
1000 genomes	rs121913041
hgdp	rs121913041
ensembl	rs121913041
geneview	rs121913041
scholar	rs121913041
google	rs121913041
pharmgkb	rs121913041
gwascentral	rs121913041
openSNP	rs121913041
23andMe	rs121913041
SNPshot	rs121913041
SNPdbe	rs121913041
MSV3d	rs121913041
GWAS Ctlg	rs121913041

Max Magnitude

0

OMIM	131222
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121913041(A;A) rs121913041(C;C)
Alt	rs121913041(A;A) rs121913041(C;C)
Reference	Rs121913041(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation	info
Gene	SCO2 TYMP
CLNDBN	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed	1
HGVS	NC_000022.10:g.50966058C>G; NC_000022.10:g.50966058C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018145.25, RCV000208641.1,