rs1060499533

Orientation

minus

Stabilized

minus

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

Make rs1060499533(C;C)

Make rs1060499533(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50526293

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1060499533
dbSNP (classic)	rs1060499533
ClinGen	rs1060499533
ebi	rs1060499533
HLI	rs1060499533
Exac	rs1060499533
Gnomad	rs1060499533
Varsome	rs1060499533
LitVar	rs1060499533
Map	rs1060499533
PheGenI	rs1060499533
Biobank	rs1060499533
1000 genomes	rs1060499533
hgdp	rs1060499533
ensembl	rs1060499533
geneview	rs1060499533
scholar	rs1060499533
google	rs1060499533
pharmgkb	rs1060499533
gwascentral	rs1060499533
openSNP	rs1060499533
23andMe	rs1060499533
SNPshot	rs1060499533
SNPdbe	rs1060499533
MSV3d	rs1060499533
GWAS Ctlg	rs1060499533

Max Magnitude

0

ClinVar
Risk	rs1060499533(C;C)
Alt	rs1060499533(C;C)
Reference	Rs1060499533(T;T)
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.50964722A>G
CLNSRC
CLNACC	RCV000208705.1,