rs1064792873

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50526141

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792873
dbSNP (classic)	rs1064792873
ClinGen	rs1064792873
ebi	rs1064792873
HLI	rs1064792873
Exac	rs1064792873
Gnomad	rs1064792873
Varsome	rs1064792873
LitVar	rs1064792873
Map	rs1064792873
PheGenI	rs1064792873
Biobank	rs1064792873
1000 genomes	rs1064792873
hgdp	rs1064792873
ensembl	rs1064792873
geneview	rs1064792873
scholar	rs1064792873
google	rs1064792873
pharmgkb	rs1064792873
gwascentral	rs1064792873
openSNP	rs1064792873
23andMe	rs1064792873
SNPshot	rs1064792873
SNPdbe	rs1064792873
MSV3d	rs1064792873
GWAS Ctlg	rs1064792873

Max Magnitude

0

ClinVar
Risk	rs1064792873(A;A)
Alt	rs1064792873(A;A)
Reference	Rs1064792873(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.50964570C>T
CLNSRC
CLNACC	RCV000208687.1,