rs797044455

Orientation

minus

Stabilized

minus

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

Make rs797044455(C;C)

Make rs797044455(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

50526142

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs797044455
dbSNP (classic)	rs797044455
ClinGen	rs797044455
ebi	rs797044455
HLI	rs797044455
Exac	rs797044455
Gnomad	rs797044455
Varsome	rs797044455
LitVar	rs797044455
Map	rs797044455
PheGenI	rs797044455
Biobank	rs797044455
1000 genomes	rs797044455
hgdp	rs797044455
ensembl	rs797044455
geneview	rs797044455
scholar	rs797044455
google	rs797044455
pharmgkb	rs797044455
gwascentral	rs797044455
openSNP	rs797044455
23andMe	rs797044455
SNPshot	rs797044455
SNPdbe	rs797044455
MSV3d	rs797044455
GWAS Ctlg	rs797044455

Max Magnitude

0

ClinVar
Risk	rs797044455(A;A) rs797044455(C;C)
Alt	rs797044455(A;A) rs797044455(C;C)
Reference	Rs797044455(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.50964571C>G; NC_000022.10:g.50964571C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018138.25, RCV000208629.1,