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rs199476121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199476121(A;G)
Make rs199476121(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position4136
GeneND1
is asnp
is mentioned by
dbSNPrs199476121
dbSNP (classic)rs199476121
ClinGenrs199476121
ebirs199476121
HLIrs199476121
Exacrs199476121
Gnomadrs199476121
Varsomers199476121
LitVarrs199476121
Maprs199476121
PheGenIrs199476121
Biobankrs199476121
1000 genomesrs199476121
hgdprs199476121
ensemblrs199476121
geneviewrs199476121
scholarrs199476121
googlers199476121
pharmgkbrs199476121
gwascentralrs199476121
openSNPrs199476121
23andMers199476121
SNPshotrs199476121
SNPdbers199476121
MSV3drs199476121
GWAS Ctlgrs199476121
Max Magnitude0
ClinVar
Risk rs199476121(G;G)
Alt rs199476121(G;G)
Reference Rs199476121(A;A)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND1
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.4136A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010378.2,