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rs397515506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515506(C;T)
Make rs397515506(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position14568
GeneND6
is asnp
is mentioned by
dbSNPrs397515506
dbSNP (classic)rs397515506
ClinGenrs397515506
ebirs397515506
HLIrs397515506
Exacrs397515506
Gnomadrs397515506
Varsomers397515506
LitVarrs397515506
Maprs397515506
PheGenIrs397515506
Biobankrs397515506
1000 genomesrs397515506
hgdprs397515506
ensemblrs397515506
geneviewrs397515506
scholarrs397515506
googlers397515506
pharmgkbrs397515506
gwascentralrs397515506
openSNPrs397515506
23andMers397515506
SNPshotrs397515506
SNPdbers397515506
MSV3drs397515506
GWAS Ctlgrs397515506
Max Magnitude0
ClinVar
Risk rs397515506(T;T)
Alt rs397515506(T;T)
Reference Rs397515506(C;C)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND6
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.14568C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055703.1,