rs1064792870

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50527170

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792870
dbSNP (classic)	rs1064792870
ClinGen	rs1064792870
ebi	rs1064792870
HLI	rs1064792870
Exac	rs1064792870
Gnomad	rs1064792870
Varsome	rs1064792870
LitVar	rs1064792870
Map	rs1064792870
PheGenI	rs1064792870
Biobank	rs1064792870
1000 genomes	rs1064792870
hgdp	rs1064792870
ensembl	rs1064792870
geneview	rs1064792870
scholar	rs1064792870
google	rs1064792870
pharmgkb	rs1064792870
gwascentral	rs1064792870
openSNP	rs1064792870
23andMe	rs1064792870
SNPshot	rs1064792870
SNPdbe	rs1064792870
MSV3d	rs1064792870
GWAS Ctlg	rs1064792870

Max Magnitude

0

ClinVar
Risk	rs1064792870(C;C)
Alt	rs1064792870(C;C)
Reference	Rs1064792870(A;A)
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.50965599T>G
CLNSRC
CLNACC	RCV000208703.1,