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rs199476125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476125(A;A)
Make rs199476125(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position3733
GeneND1
is asnp
is mentioned by
dbSNPrs199476125
dbSNP (classic)rs199476125
ClinGenrs199476125
ebirs199476125
HLIrs199476125
Exacrs199476125
Gnomadrs199476125
Varsomers199476125
LitVarrs199476125
Maprs199476125
PheGenIrs199476125
Biobankrs199476125
1000 genomesrs199476125
hgdprs199476125
ensemblrs199476125
geneviewrs199476125
scholarrs199476125
googlers199476125
pharmgkbrs199476125
gwascentralrs199476125
openSNPrs199476125
23andMers199476125
SNPshotrs199476125
SNPdbers199476125
MSV3drs199476125
GWAS Ctlgrs199476125
Max Magnitude0
ClinVar
Risk rs199476125(A;A)
Alt rs199476125(A;A)
Reference Rs199476125(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.3733G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010389.2,