rs1064792865

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50527716

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792865
dbSNP (classic)	rs1064792865
ClinGen	rs1064792865
ebi	rs1064792865
HLI	rs1064792865
Exac	rs1064792865
Gnomad	rs1064792865
Varsome	rs1064792865
LitVar	rs1064792865
Map	rs1064792865
PheGenI	rs1064792865
Biobank	rs1064792865
1000 genomes	rs1064792865
hgdp	rs1064792865
ensembl	rs1064792865
geneview	rs1064792865
scholar	rs1064792865
google	rs1064792865
pharmgkb	rs1064792865
gwascentral	rs1064792865
openSNP	rs1064792865
23andMe	rs1064792865
SNPshot	rs1064792865
SNPdbe	rs1064792865
MSV3d	rs1064792865
GWAS Ctlg	rs1064792865

Max Magnitude

0

ClinVar
Risk	rs1064792865(G;G)
Alt	rs1064792865(G;G)
Reference	Rs1064792865(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.50966145A>C
CLNSRC
CLNACC	RCV000208685.1,