rs1064792871

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50526657

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792871
dbSNP (classic)	rs1064792871
ClinGen	rs1064792871
ebi	rs1064792871
HLI	rs1064792871
Exac	rs1064792871
Gnomad	rs1064792871
Varsome	rs1064792871
LitVar	rs1064792871
Map	rs1064792871
PheGenI	rs1064792871
Biobank	rs1064792871
1000 genomes	rs1064792871
hgdp	rs1064792871
ensembl	rs1064792871
geneview	rs1064792871
scholar	rs1064792871
google	rs1064792871
pharmgkb	rs1064792871
gwascentral	rs1064792871
openSNP	rs1064792871
23andMe	rs1064792871
SNPshot	rs1064792871
SNPdbe	rs1064792871
MSV3d	rs1064792871
GWAS Ctlg	rs1064792871

Max Magnitude

0

ClinVar
Risk	rs1064792871(G;G)
Alt	rs1064792871(G;G)
Reference	Rs1064792871(C;C)
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.50965086G>C
CLNSRC
CLNACC	RCV000208628.1,