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rs587777042

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777042(C;T)
Make rs587777042(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position144096615
GeneCYC1
is asnp
is mentioned by
dbSNPrs587777042
ebirs587777042
HLIrs587777042
Exacrs587777042
Varsomers587777042
Maprs587777042
PheGenIrs587777042
hapmaprs587777042
1000 genomesrs587777042
hgdprs587777042
ensemblrs587777042
gopubmedrs587777042
geneviewrs587777042
scholarrs587777042
googlers587777042
pharmgkbrs587777042
gwascentralrs587777042
openSNPrs587777042
23andMers587777042
23andMe allrs587777042
SNP Nexus

SNPshotrs587777042
SNPdbers587777042
MSV3drs587777042
GWAS Ctlgrs587777042
Max Magnitude0
ClinVar
Risk rs587777042(T;T)
Alt rs587777042(T;T)
Reference rs587777042(C;C)
Significance Pathogenic
Disease Mitochondrial complex III deficiency
Variation info
Gene CYC1
CLNDBN Mitochondrial complex III deficiency, nuclear type 6
Reversed 0
HGVS NC_000008.10:g.145151518C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056263.2,