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rs587776508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776508(-;-)
Make rs587776508(-;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position123253922
GeneC12orf65
is asnp
is mentioned by
dbSNPrs587776508
ebirs587776508
HLIrs587776508
Exacrs587776508
Varsomers587776508
Maprs587776508
PheGenIrs587776508
hapmaprs587776508
1000 genomesrs587776508
hgdprs587776508
ensemblrs587776508
gopubmedrs587776508
geneviewrs587776508
scholarrs587776508
googlers587776508
pharmgkbrs587776508
gwascentralrs587776508
openSNPrs587776508
23andMers587776508
23andMe allrs587776508
SNP Nexus

SNPshotrs587776508
SNPdbers587776508
MSV3drs587776508
GWAS Ctlgrs587776508
Max Magnitude0
ClinVar
Risk rs587776508(;)
Alt rs587776508(;)
Reference rs587776508(T;T)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 7
Variation info
Gene C12orf65
CLNDBN Combined oxidative phosphorylation deficiency 7
Reversed 0
HGVS NC_000012.11:g.123738469delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000070.4,