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rs587776960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776960(A;A)
Make rs587776960(A;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position46087199
GeneATP5A1
is asnp
is mentioned by
dbSNPrs587776960
ebirs587776960
HLIrs587776960
Exacrs587776960
Varsomers587776960
Maprs587776960
PheGenIrs587776960
hapmaprs587776960
1000 genomesrs587776960
hgdprs587776960
ensemblrs587776960
gopubmedrs587776960
geneviewrs587776960
scholarrs587776960
googlers587776960
pharmgkbrs587776960
gwascentralrs587776960
openSNPrs587776960
23andMers587776960
23andMe allrs587776960
SNP Nexus

SNPshotrs587776960
SNPdbers587776960
MSV3drs587776960
GWAS Ctlgrs587776960
Max Magnitude0
ClinVar
Risk rs587776960(A;A)
Alt rs587776960(A;A)
Reference rs587776960(G;G)
Significance Pathogenic
Disease Mitochondrial complex v (atp synthase) deficiency
Variation info
Gene ATP5A1
CLNDBN Mitochondrial complex v (atp synthase) deficiency, nuclear type 4
Reversed 0
HGVS NC_000018.9:g.43667165G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043508.26,