rs1064792879

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50525999

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792879
dbSNP (classic)	rs1064792879
ClinGen	rs1064792879
ebi	rs1064792879
HLI	rs1064792879
Exac	rs1064792879
Gnomad	rs1064792879
Varsome	rs1064792879
LitVar	rs1064792879
Map	rs1064792879
PheGenI	rs1064792879
Biobank	rs1064792879
1000 genomes	rs1064792879
hgdp	rs1064792879
ensembl	rs1064792879
geneview	rs1064792879
scholar	rs1064792879
google	rs1064792879
pharmgkb	rs1064792879
gwascentral	rs1064792879
openSNP	rs1064792879
23andMe	rs1064792879
SNPshot	rs1064792879
SNPdbe	rs1064792879
MSV3d	rs1064792879
GWAS Ctlg	rs1064792879

Max Magnitude

0

ClinVar
Risk	rs1064792879(A;A)
Alt	rs1064792879(A;A)
Reference	Rs1064792879(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.50964428A>T
CLNSRC
CLNACC	RCV000208650.1,