rs281865490

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

66531421

Gene

TK2

is a	snp
is	mentioned by
dbSNP	rs281865490
dbSNP (classic)	rs281865490
ClinGen	rs281865490
ebi	rs281865490
HLI	rs281865490
Exac	rs281865490
Gnomad	rs281865490
Varsome	rs281865490
LitVar	rs281865490
Map	rs281865490
PheGenI	rs281865490
Biobank	rs281865490
1000 genomes	rs281865490
hgdp	rs281865490
ensembl	rs281865490
geneview	rs281865490
scholar	rs281865490
google	rs281865490
pharmgkb	rs281865490
gwascentral	rs281865490
openSNP	rs281865490
23andMe	rs281865490
SNPshot	rs281865490
SNPdbe	rs281865490
MSV3d	rs281865490
GWAS Ctlg	rs281865490

Max Magnitude

5

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

ClinVar
Risk	Rs281865490(A;A)
Alt	Rs281865490(A;A)
Reference	Rs281865490(T;T)
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.66565324A>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032243.1,