Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515508(A;A)
Make rs397515508(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position3700
GeneND1
is asnp
is mentioned by
dbSNPrs397515508
dbSNP (classic)rs397515508
ClinGenrs397515508
ebirs397515508
HLIrs397515508
Exacrs397515508
Gnomadrs397515508
Varsomers397515508
LitVarrs397515508
Maprs397515508
PheGenIrs397515508
Biobankrs397515508
1000 genomesrs397515508
hgdprs397515508
ensemblrs397515508
geneviewrs397515508
scholarrs397515508
googlers397515508
pharmgkbrs397515508
gwascentralrs397515508
openSNPrs397515508
23andMers397515508
SNPshotrs397515508
SNPdbers397515508
MSV3drs397515508
GWAS Ctlgrs397515508
Max Magnitude0
ClinVar
Risk rs397515508(A;A)
Alt rs397515508(A;A)
Reference Rs397515508(G;G)
Significance Pathogenic
Disease Leber's optic atrophy Abnormal electroretinogram Optic neuropathy Visual loss
Variation info
Gene ND1
CLNDBN Leber's optic atrophy Abnormal electroretinogram Optic neuropathy Visual loss
Reversed 0
HGVS NC_012920.1:m.3700G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055708.1, RCV000415448.1,