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rs587777004

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777004(A;C)
Make rs587777004(C;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position244842055
GeneCOX20, HNRNPU-AS1
is asnp
is mentioned by
dbSNPrs587777004
ebirs587777004
HLIrs587777004
Exacrs587777004
Varsomers587777004
Maprs587777004
PheGenIrs587777004
hapmaprs587777004
1000 genomesrs587777004
hgdprs587777004
ensemblrs587777004
gopubmedrs587777004
geneviewrs587777004
scholarrs587777004
googlers587777004
pharmgkbrs587777004
gwascentralrs587777004
openSNPrs587777004
23andMers587777004
23andMe allrs587777004
SNP Nexus

SNPshotrs587777004
SNPdbers587777004
MSV3drs587777004
GWAS Ctlgrs587777004
Max Magnitude0
ClinVar
Risk rs587777004(C;C)
Alt rs587777004(C;C)
Reference rs587777004(A;A)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene HNRNPU-AS1 COX20
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000001.10:g.245005357A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000049300.4,