rs1064792891

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50525819

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792891
dbSNP (classic)	rs1064792891
ClinGen	rs1064792891
ebi	rs1064792891
HLI	rs1064792891
Exac	rs1064792891
Gnomad	rs1064792891
Varsome	rs1064792891
LitVar	rs1064792891
Map	rs1064792891
PheGenI	rs1064792891
Biobank	rs1064792891
1000 genomes	rs1064792891
hgdp	rs1064792891
ensembl	rs1064792891
geneview	rs1064792891
scholar	rs1064792891
google	rs1064792891
pharmgkb	rs1064792891
gwascentral	rs1064792891
openSNP	rs1064792891
23andMe	rs1064792891
SNPshot	rs1064792891
SNPdbe	rs1064792891
MSV3d	rs1064792891
GWAS Ctlg	rs1064792891

Max Magnitude

0

ClinVar
Risk	rs1064792891(-;-)
Alt	rs1064792891(-;-)
Reference	Rs1064792891(GCCATT;GCCATT)
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.50964248_50964253delAATGGC
CLNSRC
CLNACC	RCV000208631.1,