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rs757472611

From SNPedia

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Geno Mag Summary
(;) 0 common in clinvar
Make rs757472611(-;-)
Make rs757472611(-;G)
Make rs757472611(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position42798482
GeneCNTD1, COA3
is asnp
is mentioned by
dbSNPrs757472611
ebirs757472611
HLIrs757472611
Exacrs757472611
Varsomers757472611
Maprs757472611
PheGenIrs757472611
hapmaprs757472611
1000 genomesrs757472611
hgdprs757472611
ensemblrs757472611
gopubmedrs757472611
geneviewrs757472611
scholarrs757472611
googlers757472611
pharmgkbrs757472611
gwascentralrs757472611
openSNPrs757472611
23andMers757472611
23andMe allrs757472611
SNP Nexus

SNPshotrs757472611
SNPdbers757472611
MSV3drs757472611
GWAS Ctlgrs757472611
Max Magnitude0
ClinVar
Risk rs757472611(G;G)
Alt rs757472611(G;G)
Reference rs757472611(;)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COA3 CNTD1
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000017.10:g.40950501dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000170598.2,