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rs587777594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777594(A;G)
Make rs587777594(G;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position150491665
GeneMIR6878, TARS2
is asnp
is mentioned by
dbSNPrs587777594
dbSNP (classic)rs587777594
ClinGenrs587777594
ebirs587777594
HLIrs587777594
Exacrs587777594
Gnomadrs587777594
Varsomers587777594
LitVarrs587777594
Maprs587777594
PheGenIrs587777594
Biobankrs587777594
1000 genomesrs587777594
hgdprs587777594
ensemblrs587777594
geneviewrs587777594
scholarrs587777594
googlers587777594
pharmgkbrs587777594
gwascentralrs587777594
openSNPrs587777594
23andMers587777594
SNPshotrs587777594
SNPdbers587777594
MSV3drs587777594
GWAS Ctlgrs587777594
Max Magnitude0
ClinVar
Risk rs587777594(G;G)
Alt rs587777594(G;G)
Reference Rs587777594(A;A)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 21
Variation info
Gene MIR6878 TARS2
CLNDBN Combined oxidative phosphorylation deficiency 21
Reversed 0
HGVS NC_000001.10:g.150464141A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000132558.5,