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rs778740017

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs778740017(C;T)
Make rs778740017(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position35651301
GeneCOX6B1
is asnp
is mentioned by
dbSNPrs778740017
ebirs778740017
HLIrs778740017
Exacrs778740017
Varsomers778740017
Maprs778740017
PheGenIrs778740017
hapmaprs778740017
1000 genomesrs778740017
hgdprs778740017
ensemblrs778740017
gopubmedrs778740017
geneviewrs778740017
scholarrs778740017
googlers778740017
pharmgkbrs778740017
gwascentralrs778740017
openSNPrs778740017
23andMers778740017
23andMe allrs778740017
SNP Nexus

SNPshotrs778740017
SNPdbers778740017
MSV3drs778740017
GWAS Ctlgrs778740017
Max Magnitude0
ClinVar
Risk rs778740017(T;T)
Alt rs778740017(T;T)
Reference rs778740017(C;C)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COX6B1
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000019.9:g.36142203C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201789.1,