rs1064792887

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50527210

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792887
dbSNP (classic)	rs1064792887
ClinGen	rs1064792887
ebi	rs1064792887
HLI	rs1064792887
Exac	rs1064792887
Gnomad	rs1064792887
Varsome	rs1064792887
LitVar	rs1064792887
Map	rs1064792887
PheGenI	rs1064792887
Biobank	rs1064792887
1000 genomes	rs1064792887
hgdp	rs1064792887
ensembl	rs1064792887
geneview	rs1064792887
scholar	rs1064792887
google	rs1064792887
pharmgkb	rs1064792887
gwascentral	rs1064792887
openSNP	rs1064792887
23andMe	rs1064792887
SNPshot	rs1064792887
SNPdbe	rs1064792887
MSV3d	rs1064792887
GWAS Ctlg	rs1064792887

Max Magnitude

0

ClinVar
Risk	rs1064792887(-;-)
Alt	rs1064792887(-;-)
Reference	Rs1064792887(C;C)
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.50965639delG
CLNSRC
CLNACC	RCV000208696.1,