rs1060499532

Orientation

minus

Stabilized

minus

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

Make rs1060499532(C;C)

Make rs1060499532(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50526338

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1060499532
dbSNP (classic)	rs1060499532
ClinGen	rs1060499532
ebi	rs1060499532
HLI	rs1060499532
Exac	rs1060499532
Gnomad	rs1060499532
Varsome	rs1060499532
LitVar	rs1060499532
Map	rs1060499532
PheGenI	rs1060499532
Biobank	rs1060499532
1000 genomes	rs1060499532
hgdp	rs1060499532
ensembl	rs1060499532
geneview	rs1060499532
scholar	rs1060499532
google	rs1060499532
pharmgkb	rs1060499532
gwascentral	rs1060499532
openSNP	rs1060499532
23andMe	rs1060499532
SNPshot	rs1060499532
SNPdbe	rs1060499532
MSV3d	rs1060499532
GWAS Ctlg	rs1060499532

Max Magnitude

0

ClinVar
Risk	rs1060499532(C;C)
Alt	rs1060499532(C;C)
Reference	Rs1060499532(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.50964767A>G
CLNSRC
CLNACC	RCV000208689.1,