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rs398124297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398124297(-;-)
Make rs398124297(-;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position193644014
GeneOPA1
is asnp
is mentioned by
dbSNPrs398124297
dbSNP (classic)rs398124297
ClinGenrs398124297
ebirs398124297
HLIrs398124297
Exacrs398124297
Gnomadrs398124297
Varsomers398124297
LitVarrs398124297
Maprs398124297
PheGenIrs398124297
Biobankrs398124297
1000 genomesrs398124297
hgdprs398124297
ensemblrs398124297
geneviewrs398124297
scholarrs398124297
googlers398124297
pharmgkbrs398124297
gwascentralrs398124297
openSNPrs398124297
23andMers398124297
SNPshotrs398124297
SNPdbers398124297
MSV3drs398124297
GWAS Ctlgrs398124297
Max Magnitude0
ClinVar
Risk rs398124297(-;-)
Alt rs398124297(-;-)
Reference Rs398124297(T;T)
Significance Pathogenic
Disease not provided Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN not provided Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193361803delT
CLNSRC ClinVar
CLNACC RCV000081750.3, RCV000174779.1,