rs1064792869

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50527215

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792869
dbSNP (classic)	rs1064792869
ClinGen	rs1064792869
ebi	rs1064792869
HLI	rs1064792869
Exac	rs1064792869
Gnomad	rs1064792869
Varsome	rs1064792869
LitVar	rs1064792869
Map	rs1064792869
PheGenI	rs1064792869
Biobank	rs1064792869
1000 genomes	rs1064792869
hgdp	rs1064792869
ensembl	rs1064792869
geneview	rs1064792869
scholar	rs1064792869
google	rs1064792869
pharmgkb	rs1064792869
gwascentral	rs1064792869
openSNP	rs1064792869
23andMe	rs1064792869
SNPshot	rs1064792869
SNPdbe	rs1064792869
MSV3d	rs1064792869
GWAS Ctlg	rs1064792869

Max Magnitude

0

ClinVar
Risk	rs1064792869(A;A)
Alt	rs1064792869(A;A)
Reference	Rs1064792869(G;G)
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.50965644C>T
CLNSRC
CLNACC	RCV000208661.1,