rs281865486

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66549001

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865486
dbSNP (classic)	rs281865486
ClinGen	rs281865486
ebi	rs281865486
HLI	rs281865486
Exac	rs281865486
Gnomad	rs281865486
Varsome	rs281865486
LitVar	rs281865486
Map	rs281865486
PheGenI	rs281865486
Biobank	rs281865486
1000 genomes	rs281865486
hgdp	rs281865486
ensembl	rs281865486
geneview	rs281865486
scholar	rs281865486
google	rs281865486
pharmgkb	rs281865486
gwascentral	rs281865486
openSNP	rs281865486
23andMe	rs281865486
SNPshot	rs281865486
SNPdbe	rs281865486
MSV3d	rs281865486
GWAS Ctlg	rs281865486

Max Magnitude

5

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

ClinVar
Risk	Rs281865486(T;T)
Alt	Rs281865486(T;T)
Reference	Rs281865486(C;C)
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.66582904G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032233.1,