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rs200145866

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200145866(C;C)
Make rs200145866(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position11253
GeneMT-ND4
is asnp
is mentioned by
dbSNPrs200145866
ebirs200145866
HLIrs200145866
Exacrs200145866
Varsomers200145866
Maprs200145866
PheGenIrs200145866
hapmaprs200145866
1000 genomesrs200145866
hgdprs200145866
ensemblrs200145866
gopubmedrs200145866
geneviewrs200145866
scholarrs200145866
googlers200145866
pharmgkbrs200145866
gwascentralrs200145866
openSNPrs200145866
23andMers200145866
23andMe allrs200145866
SNP Nexus

SNPshotrs200145866
SNPdbers200145866
MSV3drs200145866
GWAS Ctlgrs200145866
Max Magnitude0
ClinVar
Risk rs200145866(C;C)
Alt rs200145866(C;C)
Reference rs200145866(T;T)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND4
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.11253T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055696.1,