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rs137886900

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137886900(A;A)
Make rs137886900(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position66517207
GeneTK2
is asnp
is mentioned by
dbSNPrs137886900
ebirs137886900
HLIrs137886900
Exacrs137886900
Varsomers137886900
Maprs137886900
PheGenIrs137886900
hapmaprs137886900
1000 genomesrs137886900
hgdprs137886900
ensemblrs137886900
gopubmedrs137886900
geneviewrs137886900
scholarrs137886900
googlers137886900
pharmgkbrs137886900
gwascentralrs137886900
openSNPrs137886900
23andMers137886900
23andMe allrs137886900
SNP Nexus

SNPshotrs137886900
SNPdbers137886900
MSV3drs137886900
GWAS Ctlgrs137886900
Max Magnitude0
ClinVar
Risk rs137886900(A,C,T;A,C,T)
Alt rs137886900(A,C,T;A,C,T)
Reference rs137886900(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 2 not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions
Variation info
Gene TK2
CLNDBN Mitochondrial DNA depletion syndrome 2 not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Reversed 0
HGVS NC_000016.9:g.66551110G>A; NC_000016.9:g.66551110G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032251.4, RCV000196381.1, RCV000239457.1, RCV000032250.1,