rs1064792867

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50527611

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792867
dbSNP (classic)	rs1064792867
ClinGen	rs1064792867
ebi	rs1064792867
HLI	rs1064792867
Exac	rs1064792867
Gnomad	rs1064792867
Varsome	rs1064792867
LitVar	rs1064792867
Map	rs1064792867
PheGenI	rs1064792867
Biobank	rs1064792867
1000 genomes	rs1064792867
hgdp	rs1064792867
ensembl	rs1064792867
geneview	rs1064792867
scholar	rs1064792867
google	rs1064792867
pharmgkb	rs1064792867
gwascentral	rs1064792867
openSNP	rs1064792867
23andMe	rs1064792867
SNPshot	rs1064792867
SNPdbe	rs1064792867
MSV3d	rs1064792867
GWAS Ctlg	rs1064792867

Max Magnitude

0

ClinVar
Risk	rs1064792867(G;G)
Alt	rs1064792867(G;G)
Reference	Rs1064792867(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.50966040A>C
CLNSRC
CLNACC	RCV000208663.1,