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rs193302933

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193302933(C;C)
Make rs193302933(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position10663
GeneND4L
is asnp
is mentioned by
dbSNPrs193302933
dbSNP (classic)rs193302933
ClinGenrs193302933
ebirs193302933
HLIrs193302933
Exacrs193302933
Gnomadrs193302933
Varsomers193302933
LitVarrs193302933
Maprs193302933
PheGenIrs193302933
Biobankrs193302933
1000 genomesrs193302933
hgdprs193302933
ensemblrs193302933
geneviewrs193302933
scholarrs193302933
googlers193302933
pharmgkbrs193302933
gwascentralrs193302933
openSNPrs193302933
23andMers193302933
SNPshotrs193302933
SNPdbers193302933
MSV3drs193302933
GWAS Ctlgrs193302933
Merged fromRs199476114, Rs2854121
Max Magnitude0
ClinVar
Risk rs193302933(C;C)
Alt rs193302933(C;C)
Reference Rs193302933(T;T)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND4L
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.10663T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010353.3,