rs281865503

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;G)	3	Carrier of a mitochondrial depletion syndrome mutation
(G;G)	5	TK-2 related mitochondrial depletion syndrome (myopathic)

Reference

GRCh38 38.1/141

Chromosome

16

Position

66548991

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865503
dbSNP (classic)	rs281865503
ClinGen	rs281865503
ebi	rs281865503
HLI	rs281865503
Exac	rs281865503
Gnomad	rs281865503
Varsome	rs281865503
LitVar	rs281865503
Map	rs281865503
PheGenI	rs281865503
Biobank	rs281865503
1000 genomes	rs281865503
hgdp	rs281865503
ensembl	rs281865503
geneview	rs281865503
scholar	rs281865503
google	rs281865503
pharmgkb	rs281865503
gwascentral	rs281865503
openSNP	rs281865503
23andMe	rs281865503
SNPshot	rs281865503
SNPdbe	rs281865503
MSV3d	rs281865503
GWAS Ctlg	rs281865503

Max Magnitude

5

Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition

ClinVar
Risk	Rs281865503(G;G)
Alt	Rs281865503(G;G)
Reference	Rs281865503(-;-)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 2
Variation	info
Gene	TK2
CLNDBN	Mitochondrial DNA depletion syndrome 2
Reversed	1
HGVS	NC_000016.9:g.66582895dupC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032234.1,