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rs587777788

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777788(C;C)
Make rs587777788(C;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position46087222
GeneATP5A1
is asnp
is mentioned by
dbSNPrs587777788
ebirs587777788
HLIrs587777788
Exacrs587777788
Varsomers587777788
Maprs587777788
PheGenIrs587777788
hapmaprs587777788
1000 genomesrs587777788
hgdprs587777788
ensemblrs587777788
gopubmedrs587777788
geneviewrs587777788
scholarrs587777788
googlers587777788
pharmgkbrs587777788
gwascentralrs587777788
openSNPrs587777788
23andMers587777788
23andMe allrs587777788
SNP Nexus

SNPshotrs587777788
SNPdbers587777788
MSV3drs587777788
GWAS Ctlgrs587777788
Max Magnitude0
ClinVar
Risk rs587777788(A,C;A,C)
Alt rs587777788(A,C;A,C)
Reference rs587777788(T;T)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 22
Variation info
Gene ATP5A1
CLNDBN Combined oxidative phosphorylation deficiency 22
Reversed 0
HGVS NC_000018.9:g.43667188T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144489.2,