rs121913036

Orientation

minus

Stabilized

minus

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

Make rs121913036(A;C)

Make rs121913036(C;C)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50526638

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs121913036
dbSNP (classic)	rs121913036
ClinGen	rs121913036
ebi	rs121913036
HLI	rs121913036
Exac	rs121913036
Gnomad	rs121913036
Varsome	rs121913036
LitVar	rs121913036
Map	rs121913036
PheGenI	rs121913036
Biobank	rs121913036
1000 genomes	rs121913036
hgdp	rs121913036
ensembl	rs121913036
geneview	rs121913036
scholar	rs121913036
google	rs121913036
pharmgkb	rs121913036
gwascentral	rs121913036
openSNP	rs121913036
23andMe	rs121913036
SNPshot	rs121913036
SNPdbe	rs121913036
MSV3d	rs121913036
GWAS Ctlg	rs121913036

Max Magnitude

0

OMIM	131222
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121913036(C;C)
Alt	rs121913036(C;C)
Reference	Rs121913036(A;A)
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.50965067T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018133.27,