rs1060499535

Orientation

minus

Stabilized

minus

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

Make rs1060499535(-;-)

Make rs1060499535(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50526317

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1060499535
dbSNP (classic)	rs1060499535
ClinGen	rs1060499535
ebi	rs1060499535
HLI	rs1060499535
Exac	rs1060499535
Gnomad	rs1060499535
Varsome	rs1060499535
LitVar	rs1060499535
Map	rs1060499535
PheGenI	rs1060499535
Biobank	rs1060499535
1000 genomes	rs1060499535
hgdp	rs1060499535
ensembl	rs1060499535
geneview	rs1060499535
scholar	rs1060499535
google	rs1060499535
pharmgkb	rs1060499535
gwascentral	rs1060499535
openSNP	rs1060499535
23andMe	rs1060499535
SNPshot	rs1060499535
SNPdbe	rs1060499535
MSV3d	rs1060499535
GWAS Ctlg	rs1060499535

Max Magnitude

0

ClinVar
Risk	rs1060499535(-;-)
Alt	rs1060499535(-;-)
Reference	Rs1060499535(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.50964746delC
CLNSRC
CLNACC	RCV000208695.1,