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rs587777593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777593(C;T)
Make rs587777593(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position150496552
GeneTARS2
is asnp
is mentioned by
dbSNPrs587777593
ebirs587777593
HLIrs587777593
Exacrs587777593
Varsomers587777593
Maprs587777593
PheGenIrs587777593
hapmaprs587777593
1000 genomesrs587777593
hgdprs587777593
ensemblrs587777593
gopubmedrs587777593
geneviewrs587777593
scholarrs587777593
googlers587777593
pharmgkbrs587777593
gwascentralrs587777593
openSNPrs587777593
23andMers587777593
23andMe allrs587777593
SNP Nexus

SNPshotrs587777593
SNPdbers587777593
MSV3drs587777593
GWAS Ctlgrs587777593
Max Magnitude0
ClinVar
Risk rs587777593(T;T)
Alt rs587777593(T;T)
Reference rs587777593(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 21
Variation info
Gene TARS2
CLNDBN Combined oxidative phosphorylation deficiency 21
Reversed 0
HGVS NC_000001.10:g.150469028C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000132557.4,