rs1064792874

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50526019

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792874
dbSNP (classic)	rs1064792874
ClinGen	rs1064792874
ebi	rs1064792874
HLI	rs1064792874
Exac	rs1064792874
Gnomad	rs1064792874
Varsome	rs1064792874
LitVar	rs1064792874
Map	rs1064792874
PheGenI	rs1064792874
Biobank	rs1064792874
1000 genomes	rs1064792874
hgdp	rs1064792874
ensembl	rs1064792874
geneview	rs1064792874
scholar	rs1064792874
google	rs1064792874
pharmgkb	rs1064792874
gwascentral	rs1064792874
openSNP	rs1064792874
23andMe	rs1064792874
SNPshot	rs1064792874
SNPdbe	rs1064792874
MSV3d	rs1064792874
GWAS Ctlg	rs1064792874

Max Magnitude

0

ClinVar
Risk	rs1064792874(A;A)
Alt	rs1064792874(A;A)
Reference	Rs1064792874(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.50964448C>T
CLNSRC
CLNACC	RCV000208625.1,