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rs879255560

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTT;AGTT) 0 common in clinvar
Make rs879255560(-;-)
Make rs879255560(-;TTAG)
Make rs879255560(TTAG;TTAG)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position193692069
GeneOPA1
is asnp
is mentioned by
dbSNPrs879255560
dbSNP (classic)rs879255560
ClinGenrs879255560
ebirs879255560
HLIrs879255560
Exacrs879255560
Gnomadrs879255560
Varsomers879255560
LitVarrs879255560
Maprs879255560
PheGenIrs879255560
Biobankrs879255560
1000 genomesrs879255560
hgdprs879255560
ensemblrs879255560
geneviewrs879255560
scholarrs879255560
googlers879255560
pharmgkbrs879255560
gwascentralrs879255560
openSNPrs879255560
23andMers879255560
SNPshotrs879255560
SNPdbers879255560
MSV3drs879255560
GWAS Ctlgrs879255560
Max Magnitude0
ClinVar
Risk rs879255560(-;-)
Alt rs879255560(-;-)
Reference Rs879255560(AGTT;AGTT)
Significance Pathogenic
Disease Dominant hereditary optic atrophy not provided
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy not provided
Reversed 0
HGVS NC_000003.11:g.193409858_193409861delTTAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005388.2, RCV000355298.1,