rs1064792892

Orientation

minus

Stabilized

minus

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

Chromosome

22

Position

50526386

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs1064792892
dbSNP (classic)	rs1064792892
ClinGen	rs1064792892
ebi	rs1064792892
HLI	rs1064792892
Exac	rs1064792892
Gnomad	rs1064792892
Varsome	rs1064792892
LitVar	rs1064792892
Map	rs1064792892
PheGenI	rs1064792892
Biobank	rs1064792892
1000 genomes	rs1064792892
hgdp	rs1064792892
ensembl	rs1064792892
geneview	rs1064792892
scholar	rs1064792892
google	rs1064792892
pharmgkb	rs1064792892
gwascentral	rs1064792892
openSNP	rs1064792892
23andMe	rs1064792892
SNPshot	rs1064792892
SNPdbe	rs1064792892
MSV3d	rs1064792892
GWAS Ctlg	rs1064792892

Max Magnitude

0

ClinVar
Risk	rs1064792892(AA;AA)
Alt	rs1064792892(AA;AA)
Reference	Rs1064792892(GCTCGGCCCT;GCTCGGCCCT)
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.50964815_50964824delAGGGCCGAGCinsTT
CLNSRC
CLNACC	RCV000208673.1,