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rs587777410

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777410(C;C)
Make rs587777410(C;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position33700516
GeneUQCC2
is asnp
is mentioned by
dbSNPrs587777410
ebirs587777410
HLIrs587777410
Exacrs587777410
Varsomers587777410
Maprs587777410
PheGenIrs587777410
hapmaprs587777410
1000 genomesrs587777410
hgdprs587777410
ensemblrs587777410
gopubmedrs587777410
geneviewrs587777410
scholarrs587777410
googlers587777410
pharmgkbrs587777410
gwascentralrs587777410
openSNPrs587777410
23andMers587777410
23andMe allrs587777410
SNP Nexus

SNPshotrs587777410
SNPdbers587777410
MSV3drs587777410
GWAS Ctlgrs587777410
Max Magnitude0
ClinVar
Risk rs587777410(A,C;A,C)
Alt rs587777410(A,C;A,C)
Reference rs587777410(G;G)
Significance Pathogenic
Disease Mitochondrial complex III deficiency
Variation info
Gene UQCC2
CLNDBN Mitochondrial complex III deficiency, nuclear type 7
Reversed 0
HGVS NC_000006.11:g.33668293G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000119808.2,