rs104893632

Orientation

plus

Stabilized

plus

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

Make rs104893632(A;A)

Make rs104893632(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

73957212

Gene

DGUOK

is a	snp
is	mentioned by
dbSNP	rs104893632
dbSNP (classic)	rs104893632
ClinGen	rs104893632
ebi	rs104893632
HLI	rs104893632
Exac	rs104893632
Gnomad	rs104893632
Varsome	rs104893632
LitVar	rs104893632
Map	rs104893632
PheGenI	rs104893632
Biobank	rs104893632
1000 genomes	rs104893632
hgdp	rs104893632
ensembl	rs104893632
geneview	rs104893632
scholar	rs104893632
google	rs104893632
pharmgkb	rs104893632
gwascentral	rs104893632
openSNP	rs104893632
23andMe	rs104893632
SNPshot	rs104893632
SNPdbe	rs104893632
MSV3d	rs104893632
GWAS Ctlg	rs104893632

Max Magnitude

0

OMIM	601465
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893632(A;A)
Alt	rs104893632(A;A)
Reference	Rs104893632(G;G)
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.74184339G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008636.4,