rs1064792866

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50527704

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792866
dbSNP (classic)	rs1064792866
ClinGen	rs1064792866
ebi	rs1064792866
HLI	rs1064792866
Exac	rs1064792866
Gnomad	rs1064792866
Varsome	rs1064792866
LitVar	rs1064792866
Map	rs1064792866
PheGenI	rs1064792866
Biobank	rs1064792866
1000 genomes	rs1064792866
hgdp	rs1064792866
ensembl	rs1064792866
geneview	rs1064792866
scholar	rs1064792866
google	rs1064792866
pharmgkb	rs1064792866
gwascentral	rs1064792866
openSNP	rs1064792866
23andMe	rs1064792866
SNPshot	rs1064792866
SNPdbe	rs1064792866
MSV3d	rs1064792866
GWAS Ctlg	rs1064792866

Max Magnitude

0

ClinVar
Risk	rs1064792866(C;C)
Alt	rs1064792866(C;C)
Reference	Rs1064792866(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.50966133A>G
CLNSRC
CLNACC	RCV000208713.1,