rs1060499534

Orientation

minus

Stabilized

minus

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

Make rs1060499534(A;A)

Make rs1060499534(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50526246

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1060499534
dbSNP (classic)	rs1060499534
ClinGen	rs1060499534
ebi	rs1060499534
HLI	rs1060499534
Exac	rs1060499534
Gnomad	rs1060499534
Varsome	rs1060499534
LitVar	rs1060499534
Map	rs1060499534
PheGenI	rs1060499534
Biobank	rs1060499534
1000 genomes	rs1060499534
hgdp	rs1060499534
ensembl	rs1060499534
geneview	rs1060499534
scholar	rs1060499534
google	rs1060499534
pharmgkb	rs1060499534
gwascentral	rs1060499534
openSNP	rs1060499534
23andMe	rs1060499534
SNPshot	rs1060499534
SNPdbe	rs1060499534
MSV3d	rs1060499534
GWAS Ctlg	rs1060499534

Max Magnitude

0

ClinVar
Risk	rs1060499534(A;A)
Alt	rs1060499534(A;A)
Reference	Rs1060499534(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.50964675C>T
CLNSRC
CLNACC	RCV000208644.1,