rs1064792875

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50525908

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792875
dbSNP (classic)	rs1064792875
ClinGen	rs1064792875
ebi	rs1064792875
HLI	rs1064792875
Exac	rs1064792875
Gnomad	rs1064792875
Varsome	rs1064792875
LitVar	rs1064792875
Map	rs1064792875
PheGenI	rs1064792875
Biobank	rs1064792875
1000 genomes	rs1064792875
hgdp	rs1064792875
ensembl	rs1064792875
geneview	rs1064792875
scholar	rs1064792875
google	rs1064792875
pharmgkb	rs1064792875
gwascentral	rs1064792875
openSNP	rs1064792875
23andMe	rs1064792875
SNPshot	rs1064792875
SNPdbe	rs1064792875
MSV3d	rs1064792875
GWAS Ctlg	rs1064792875

Max Magnitude

0

ClinVar
Risk	rs1064792875(A;A)
Alt	rs1064792875(A;A)
Reference	Rs1064792875(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.50964337C>T
CLNSRC
CLNACC	RCV000208654.1,