rs1064792888

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50526720

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792888
dbSNP (classic)	rs1064792888
ClinGen	rs1064792888
ebi	rs1064792888
HLI	rs1064792888
Exac	rs1064792888
Gnomad	rs1064792888
Varsome	rs1064792888
LitVar	rs1064792888
Map	rs1064792888
PheGenI	rs1064792888
Biobank	rs1064792888
1000 genomes	rs1064792888
hgdp	rs1064792888
ensembl	rs1064792888
geneview	rs1064792888
scholar	rs1064792888
google	rs1064792888
pharmgkb	rs1064792888
gwascentral	rs1064792888
openSNP	rs1064792888
23andMe	rs1064792888
SNPshot	rs1064792888
SNPdbe	rs1064792888
MSV3d	rs1064792888
GWAS Ctlg	rs1064792888

Max Magnitude

0

ClinVar
Risk	rs1064792888(-;-)
Alt	rs1064792888(-;-)
Reference	Rs1064792888(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.50965149delG
CLNSRC
CLNACC	RCV000208623.1,