rs104893630

Orientation

plus

Stabilized

plus

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

Make rs104893630(C;T)

Make rs104893630(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

73946776

Gene

DGUOK

is a	snp
is	mentioned by
dbSNP	rs104893630
dbSNP (classic)	rs104893630
ClinGen	rs104893630
ebi	rs104893630
HLI	rs104893630
Exac	rs104893630
Gnomad	rs104893630
Varsome	rs104893630
LitVar	rs104893630
Map	rs104893630
PheGenI	rs104893630
Biobank	rs104893630
1000 genomes	rs104893630
hgdp	rs104893630
ensembl	rs104893630
geneview	rs104893630
scholar	rs104893630
google	rs104893630
pharmgkb	rs104893630
gwascentral	rs104893630
openSNP	rs104893630
23andMe	rs104893630
SNPshot	rs104893630
SNPdbe	rs104893630
MSV3d	rs104893630
GWAS Ctlg	rs104893630

Max Magnitude

0

OMIM	601465
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104893630(T;T)
Alt	rs104893630(T;T)
Reference	Rs104893630(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA-depletion syndrome 3
Variation	info
Gene	DGUOK
CLNDBN	Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Reversed	0
HGVS	NC_000002.11:g.74173903C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008632.4,