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rs199476115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476115(A;A)
Make rs199476115(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position5244
GeneND2
is asnp
is mentioned by
dbSNPrs199476115
dbSNP (classic)rs199476115
ClinGenrs199476115
ebirs199476115
HLIrs199476115
Exacrs199476115
Gnomadrs199476115
Varsomers199476115
LitVarrs199476115
Maprs199476115
PheGenIrs199476115
Biobankrs199476115
1000 genomesrs199476115
hgdprs199476115
ensemblrs199476115
geneviewrs199476115
scholarrs199476115
googlers199476115
pharmgkbrs199476115
gwascentralrs199476115
openSNPrs199476115
23andMers199476115
SNPshotrs199476115
SNPdbers199476115
MSV3drs199476115
GWAS Ctlgrs199476115
Max Magnitude0
ClinVar
Risk rs199476115(A;A)
Alt rs199476115(A;A)
Reference Rs199476115(G;G)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND2
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.5244G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010365.2,