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rs387906929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906929(A;G)
Make rs387906929(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position59030427
GeneATP5E, DENND5A
is asnp
is mentioned by
dbSNPrs387906929
ebirs387906929
HLIrs387906929
Exacrs387906929
Varsomers387906929
Maprs387906929
PheGenIrs387906929
hapmaprs387906929
1000 genomesrs387906929
hgdprs387906929
ensemblrs387906929
gopubmedrs387906929
geneviewrs387906929
scholarrs387906929
googlers387906929
pharmgkbrs387906929
gwascentralrs387906929
openSNPrs387906929
23andMers387906929
23andMe allrs387906929
SNP Nexus

SNPshotrs387906929
SNPdbers387906929
MSV3drs387906929
GWAS Ctlgrs387906929
Max Magnitude0
ClinVar
Risk rs387906929(G;G)
Alt rs387906929(G;G)
Reference rs387906929(A;A)
Significance Pathogenic
Disease Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3
Variation info
Gene ATP5E SLMO2-ATP5E
CLNDBN Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3
Reversed 1
HGVS NC_000020.10:g.57605482T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023508.3,