Have questions? Visit https://www.reddit.com/r/SNPedia

rs281865507

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs281865507(AA;AA)
Make rs281865507(AA;GC)
ReferenceGRCh38 38.1/141
Chromosome16
Position66531394
GeneTK2
is asnp
is mentioned by
dbSNPrs281865507
ebirs281865507
HLIrs281865507
Exacrs281865507
Varsomers281865507
Maprs281865507
PheGenIrs281865507
hapmaprs281865507
1000 genomesrs281865507
hgdprs281865507
ensemblrs281865507
gopubmedrs281865507
geneviewrs281865507
scholarrs281865507
googlers281865507
pharmgkbrs281865507
gwascentralrs281865507
openSNPrs281865507
23andMers281865507
23andMe allrs281865507
SNP Nexus

SNPshotrs281865507
SNPdbers281865507
MSV3drs281865507
GWAS Ctlgrs281865507
Max Magnitude0
ClinVar
Risk rs281865507(AA;AA)
Alt rs281865507(AA;AA)
Reference rs281865507(GC;GC)
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.66565297_66565298delGCinsTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032245.1,