rs1064792876

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50526575

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792876
dbSNP (classic)	rs1064792876
ClinGen	rs1064792876
ebi	rs1064792876
HLI	rs1064792876
Exac	rs1064792876
Gnomad	rs1064792876
Varsome	rs1064792876
LitVar	rs1064792876
Map	rs1064792876
PheGenI	rs1064792876
Biobank	rs1064792876
1000 genomes	rs1064792876
hgdp	rs1064792876
ensembl	rs1064792876
geneview	rs1064792876
scholar	rs1064792876
google	rs1064792876
pharmgkb	rs1064792876
gwascentral	rs1064792876
openSNP	rs1064792876
23andMe	rs1064792876
SNPshot	rs1064792876
SNPdbe	rs1064792876
MSV3d	rs1064792876
GWAS Ctlg	rs1064792876

Max Magnitude

0

ClinVar
Risk	rs1064792876(A;A)
Alt	rs1064792876(A;A)
Reference	Rs1064792876(G;G)
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.50965004C>T
CLNSRC
CLNACC	RCV000208662.1,