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rs199476114

From SNPedia

Merged intors193302933
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476114(C;C)
Make rs199476114(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position10663
GeneMT-ND4L
is asnp
is mentioned by
dbSNPrs199476114
dbSNP (classic)rs199476114
ClinGenrs199476114
ebirs199476114
HLIrs199476114
Exacrs199476114
Gnomadrs199476114
Varsomers199476114
LitVarrs199476114
Maprs199476114
PheGenIrs199476114
Biobankrs199476114
1000 genomesrs199476114
hgdprs199476114
ensemblrs199476114
geneviewrs199476114
scholarrs199476114
googlers199476114
pharmgkbrs199476114
gwascentralrs199476114
openSNPrs199476114
23andMers199476114
SNPshotrs199476114
SNPdbers199476114
MSV3drs199476114
GWAS Ctlgrs199476114
StatusMerged into rs193302933
Max Magnitude0
ClinVar
Risk rs199476114(C;C)
Alt rs199476114(C;C)
Reference Rs199476114(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,