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rs1057518882

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518882(C;C)
Make rs1057518882(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position14598
GeneND6
is asnp
is mentioned by
dbSNPrs1057518882
dbSNP (classic)rs1057518882
ClinGenrs1057518882
ebirs1057518882
HLIrs1057518882
Exacrs1057518882
Gnomadrs1057518882
Varsomers1057518882
LitVarrs1057518882
Maprs1057518882
PheGenIrs1057518882
Biobankrs1057518882
1000 genomesrs1057518882
hgdprs1057518882
ensemblrs1057518882
geneviewrs1057518882
scholarrs1057518882
googlers1057518882
pharmgkbrs1057518882
gwascentralrs1057518882
openSNPrs1057518882
23andMers1057518882
SNPshotrs1057518882
SNPdbers1057518882
MSV3drs1057518882
GWAS Ctlgrs1057518882
Max Magnitude0
ClinVar
Risk rs1057518882(C;C)
Alt rs1057518882(C;C)
Reference Rs1057518882(T;T)
Significance Probable-Pathogenic
Disease Blindness Parkinsonism
Variation info
Gene ND6
CLNDBN Blindness Parkinsonism
Reversed 0
HGVS NC_012920.1:m.14598T>C
CLNSRC
CLNACC RCV000415203.1,