rs1064792868

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50527223

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792868
dbSNP (classic)	rs1064792868
ClinGen	rs1064792868
ebi	rs1064792868
HLI	rs1064792868
Exac	rs1064792868
Gnomad	rs1064792868
Varsome	rs1064792868
LitVar	rs1064792868
Map	rs1064792868
PheGenI	rs1064792868
Biobank	rs1064792868
1000 genomes	rs1064792868
hgdp	rs1064792868
ensembl	rs1064792868
geneview	rs1064792868
scholar	rs1064792868
google	rs1064792868
pharmgkb	rs1064792868
gwascentral	rs1064792868
openSNP	rs1064792868
23andMe	rs1064792868
SNPshot	rs1064792868
SNPdbe	rs1064792868
MSV3d	rs1064792868
GWAS Ctlg	rs1064792868

Max Magnitude

0

ClinVar
Risk	rs1064792868(C;C)
Alt	rs1064792868(C;C)
Reference	Rs1064792868(T;T)
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.50965652A>G
CLNSRC
CLNACC	RCV000208618.1,