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rs397515612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515612(A;A)
Make rs397515612(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position3376
GeneND1
is asnp
is mentioned by
dbSNPrs397515612
dbSNP (classic)rs397515612
ClinGenrs397515612
ebirs397515612
HLIrs397515612
Exacrs397515612
Gnomadrs397515612
Varsomers397515612
LitVarrs397515612
Maprs397515612
PheGenIrs397515612
Biobankrs397515612
1000 genomesrs397515612
hgdprs397515612
ensemblrs397515612
geneviewrs397515612
scholarrs397515612
googlers397515612
pharmgkbrs397515612
gwascentralrs397515612
openSNPrs397515612
23andMers397515612
SNPshotrs397515612
SNPdbers397515612
MSV3drs397515612
GWAS Ctlgrs397515612
Max Magnitude0
ClinVar
Risk rs397515612(A;A)
Alt rs397515612(A;A)
Reference Rs397515612(G;G)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND1
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.3376G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000056167.1,