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rs576462794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs576462794(-;-)
Make rs576462794(-;A)
ReferenceGRCh38 38.1/142
Chromosome12
Position123253884
GeneC12orf65
is asnp
is mentioned by
dbSNPrs576462794
ebirs576462794
HLIrs576462794
Exacrs576462794
Varsomers576462794
Maprs576462794
PheGenIrs576462794
hapmaprs576462794
1000 genomesrs576462794
hgdprs576462794
ensemblrs576462794
gopubmedrs576462794
geneviewrs576462794
scholarrs576462794
googlers576462794
pharmgkbrs576462794
gwascentralrs576462794
openSNPrs576462794
23andMers576462794
23andMe allrs576462794
SNP Nexus

SNPshotrs576462794
SNPdbers576462794
MSV3drs576462794
GWAS Ctlgrs576462794
Max Magnitude0
ClinVar
Risk rs576462794(;)
Alt rs576462794(;)
Reference rs576462794(A;A)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 7 not provided
Variation info
Gene C12orf65
CLNDBN Combined oxidative phosphorylation deficiency 7 not provided
Reversed 0
HGVS NC_000012.11:g.123738431delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000071.4, RCV000200775.2,