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rs587777041

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777041(G;T)
Make rs587777041(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position144095991
GeneCYC1
is asnp
is mentioned by
dbSNPrs587777041
ebirs587777041
HLIrs587777041
Exacrs587777041
Varsomers587777041
Maprs587777041
PheGenIrs587777041
hapmaprs587777041
1000 genomesrs587777041
hgdprs587777041
ensemblrs587777041
gopubmedrs587777041
geneviewrs587777041
scholarrs587777041
googlers587777041
pharmgkbrs587777041
gwascentralrs587777041
openSNPrs587777041
23andMers587777041
23andMe allrs587777041
SNP Nexus

SNPshotrs587777041
SNPdbers587777041
MSV3drs587777041
GWAS Ctlgrs587777041
Max Magnitude0
ClinVar
Risk rs587777041(T;T)
Alt rs587777041(T;T)
Reference rs587777041(G;G)
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.145150894G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056262.2,