rs1064792878

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50526000

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792878
dbSNP (classic)	rs1064792878
ClinGen	rs1064792878
ebi	rs1064792878
HLI	rs1064792878
Exac	rs1064792878
Gnomad	rs1064792878
Varsome	rs1064792878
LitVar	rs1064792878
Map	rs1064792878
PheGenI	rs1064792878
Biobank	rs1064792878
1000 genomes	rs1064792878
hgdp	rs1064792878
ensembl	rs1064792878
geneview	rs1064792878
scholar	rs1064792878
google	rs1064792878
pharmgkb	rs1064792878
gwascentral	rs1064792878
openSNP	rs1064792878
23andMe	rs1064792878
SNPshot	rs1064792878
SNPdbe	rs1064792878
MSV3d	rs1064792878
GWAS Ctlg	rs1064792878

Max Magnitude

0

ClinVar
Risk	rs1064792878(A;A)
Alt	rs1064792878(A;A)
Reference	Rs1064792878(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.50964429C>T
CLNSRC
CLNACC	RCV000208711.1,