Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894630(C;T)
Make rs104894630(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position10692805
GeneSCO1
is asnp
is mentioned by
dbSNPrs104894630
dbSNP (old)rs104894630
ClinGenrs104894630
ebirs104894630
HLIrs104894630
Exacrs104894630
Gnomadrs104894630
Varsomers104894630
Maprs104894630
PheGenIrs104894630
Biobankrs104894630
1000 genomesrs104894630
hgdprs104894630
ensemblrs104894630
gopubmedrs104894630
geneviewrs104894630
scholarrs104894630
googlers104894630
pharmgkbrs104894630
gwascentralrs104894630
openSNPrs104894630
23andMers104894630
23andMe allrs104894630
SNP Nexus

SNPshotrs104894630
SNPdbers104894630
MSV3drs104894630
GWAS Ctlgrs104894630
Max Magnitude0
OMIM603644
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894630(T;T)
Alt rs104894630(T;T)
Reference Rs104894630(C;C)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene SCO1
CLNDBN Cytochrome-c oxidase deficiency
Reversed 1
HGVS NC_000017.10:g.10596122G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006555.5,