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rs41460449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs41460449(C;C)
Make rs41460449(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position3394
GeneND1
is asnp
is mentioned by
dbSNPrs41460449
dbSNP (classic)rs41460449
ClinGenrs41460449
ebirs41460449
HLIrs41460449
Exacrs41460449
Gnomadrs41460449
Varsomers41460449
LitVarrs41460449
Maprs41460449
PheGenIrs41460449
Biobankrs41460449
1000 genomesrs41460449
hgdprs41460449
ensemblrs41460449
geneviewrs41460449
scholarrs41460449
googlers41460449
pharmgkbrs41460449
gwascentralrs41460449
openSNPrs41460449
23andMers41460449
SNPshotrs41460449
SNPdbers41460449
MSV3drs41460449
GWAS Ctlgrs41460449
GMAF0.004677
Max Magnitude0
ClinVar
Risk rs41460449(C;C)
Alt rs41460449(C;C)
Reference Rs41460449(T;T)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND1
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.3394T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010375.3,