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rs199476108

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476108(A;A)
Make rs199476108(A;C)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position14482
GeneMT-CYB
is asnp
is mentioned by
dbSNPrs199476108
ebirs199476108
HLIrs199476108
Exacrs199476108
Varsomers199476108
Maprs199476108
PheGenIrs199476108
hapmaprs199476108
1000 genomesrs199476108
hgdprs199476108
ensemblrs199476108
gopubmedrs199476108
geneviewrs199476108
scholarrs199476108
googlers199476108
pharmgkbrs199476108
gwascentralrs199476108
openSNPrs199476108
23andMers199476108
23andMe allrs199476108
SNP Nexus

SNPshotrs199476108
SNPdbers199476108
MSV3drs199476108
GWAS Ctlgrs199476108
GMAF0.002806
Max Magnitude0
ClinVar
Risk rs199476108(A,G;A,G)
Alt rs199476108(A,G;A,G)
Reference rs199476108(C;C)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND6
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.14482C>A; NC_012920.1:m.14482C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010332.2, RCV000055701.1,