rs104893631

Orientation

plus

Stabilized

plus

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

Make rs104893631(A;A)

Make rs104893631(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

73946888

Gene

DGUOK

is a	snp
is	mentioned by
dbSNP	rs104893631
dbSNP (classic)	rs104893631
ClinGen	rs104893631
ebi	rs104893631
HLI	rs104893631
Exac	rs104893631
Gnomad	rs104893631
Varsome	rs104893631
LitVar	rs104893631
Map	rs104893631
PheGenI	rs104893631
Biobank	rs104893631
1000 genomes	rs104893631
hgdp	rs104893631
ensembl	rs104893631
geneview	rs104893631
scholar	rs104893631
google	rs104893631
pharmgkb	rs104893631
gwascentral	rs104893631
openSNP	rs104893631
23andMe	rs104893631
SNPshot	rs104893631
SNPdbe	rs104893631
MSV3d	rs104893631
GWAS Ctlg	rs104893631

Merged from

Rs28936406

Max Magnitude

0

OMIM	601465
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893631(A;A)
Alt	rs104893631(A;A)
Reference	Rs104893631(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.74174015G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008635.3,