rs764275775

Orientation

plus

Stabilized

plus

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

Make rs764275775(C;G)

Make rs764275775(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50525859

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs764275775
dbSNP (classic)	rs764275775
ClinGen	rs764275775
ebi	rs764275775
HLI	rs764275775
Exac	rs764275775
Gnomad	rs764275775
Varsome	rs764275775
LitVar	rs764275775
Map	rs764275775
PheGenI	rs764275775
Biobank	rs764275775
1000 genomes	rs764275775
hgdp	rs764275775
ensembl	rs764275775
geneview	rs764275775
scholar	rs764275775
google	rs764275775
pharmgkb	rs764275775
gwascentral	rs764275775
openSNP	rs764275775
23andMe	rs764275775
SNPshot	rs764275775
SNPdbe	rs764275775
MSV3d	rs764275775
GWAS Ctlg	rs764275775

Max Magnitude

0

ClinVar
Risk	rs764275775(A;A) rs764275775(G;G)
Alt	rs764275775(A;A) rs764275775(G;G)
Reference	Rs764275775(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation	info
Gene	SCO2 TYMP
CLNDBN	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed	0
HGVS	NC_000022.10:g.50964288C>G
CLNSRC
CLNACC	RCV000208684.1,