rs786205097

Orientation

minus

Stabilized

minus

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

Make rs786205097(-;C)

Make rs786205097(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

22

Position

50525808

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs786205097
dbSNP (classic)	rs786205097
ClinGen	rs786205097
ebi	rs786205097
HLI	rs786205097
Exac	rs786205097
Gnomad	rs786205097
Varsome	rs786205097
LitVar	rs786205097
Map	rs786205097
PheGenI	rs786205097
Biobank	rs786205097
1000 genomes	rs786205097
hgdp	rs786205097
ensembl	rs786205097
geneview	rs786205097
scholar	rs786205097
google	rs786205097
pharmgkb	rs786205097
gwascentral	rs786205097
openSNP	rs786205097
23andMe	rs786205097
SNPshot	rs786205097
SNPdbe	rs786205097
MSV3d	rs786205097
GWAS Ctlg	rs786205097

Max Magnitude

0

ClinVar
Risk	rs786205097(C;C)
Alt	rs786205097(C;C)
Reference	Rs786205097(-;-)
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.50964238dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018137.25,