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rs387906425

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906425(A;A)
Make rs387906425(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position13730
GeneND5
is asnp
is mentioned by
dbSNPrs387906425
dbSNP (classic)rs387906425
ClinGenrs387906425
ebirs387906425
HLIrs387906425
Exacrs387906425
Gnomadrs387906425
Varsomers387906425
LitVarrs387906425
Maprs387906425
PheGenIrs387906425
Biobankrs387906425
1000 genomesrs387906425
hgdprs387906425
ensemblrs387906425
geneviewrs387906425
scholarrs387906425
googlers387906425
pharmgkbrs387906425
gwascentralrs387906425
openSNPrs387906425
23andMers387906425
SNPshotrs387906425
SNPdbers387906425
MSV3drs387906425
GWAS Ctlgrs387906425
Max Magnitude0
ClinVar
Risk rs387906425(A;A)
Alt rs387906425(A;A)
Reference Rs387906425(G;G)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND5
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.13730G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010337.4,