rs121913040

Orientation

minus

Stabilized

minus

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

Make rs121913040(C;C)

Make rs121913040(C;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50526474

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs121913040
dbSNP (classic)	rs121913040
ClinGen	rs121913040
ebi	rs121913040
HLI	rs121913040
Exac	rs121913040
Gnomad	rs121913040
Varsome	rs121913040
LitVar	rs121913040
Map	rs121913040
PheGenI	rs121913040
Biobank	rs121913040
1000 genomes	rs121913040
hgdp	rs121913040
ensembl	rs121913040
geneview	rs121913040
scholar	rs121913040
google	rs121913040
pharmgkb	rs121913040
gwascentral	rs121913040
openSNP	rs121913040
23andMe	rs121913040
SNPshot	rs121913040
SNPdbe	rs121913040
MSV3d	rs121913040
GWAS Ctlg	rs121913040

Max Magnitude

0

OMIM	131222
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121913040(A;A) rs121913040(C;C) rs121913040(T;T)
Alt	rs121913040(A;A) rs121913040(C;C) rs121913040(T;T)
Reference	Rs121913040(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation	info
Gene	TYMP SCO2
CLNDBN	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed	1
HGVS	NC_000022.10:g.50964903C>A; NC_000022.10:g.50964903C>G; NC_000022.10:g.50964903C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000208708.1, RCV000018144.28, RCV000208664.1,