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rs193302927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193302927(C;C)
Make rs193302927(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position10237
GeneND3
is asnp
is mentioned by
dbSNPrs193302927
dbSNP (classic)rs193302927
ClinGenrs193302927
ebirs193302927
HLIrs193302927
Exacrs193302927
Gnomadrs193302927
Varsomers193302927
LitVarrs193302927
Maprs193302927
PheGenIrs193302927
Biobankrs193302927
1000 genomesrs193302927
hgdprs193302927
ensemblrs193302927
geneviewrs193302927
scholarrs193302927
googlers193302927
pharmgkbrs193302927
gwascentralrs193302927
openSNPrs193302927
23andMers193302927
SNPshotrs193302927
SNPdbers193302927
MSV3drs193302927
GWAS Ctlgrs193302927
Merged fromRs397515504
Max Magnitude0
ClinVar
Risk rs193302927(C;C)
Alt rs193302927(C;C)
Reference Rs193302927(T;T)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene ND3
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.10237T>C
CLNSRC
CLNACC RCV000055695.1,