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rs104893752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893752(C;T)
Make rs104893752(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position193638015
GeneOPA1
is asnp
is mentioned by
dbSNPrs104893752
ebirs104893752
HLIrs104893752
Exacrs104893752
Varsomers104893752
Maprs104893752
PheGenIrs104893752
hapmaprs104893752
1000 genomesrs104893752
hgdprs104893752
ensemblrs104893752
gopubmedrs104893752
geneviewrs104893752
scholarrs104893752
googlers104893752
pharmgkbrs104893752
gwascentralrs104893752
openSNPrs104893752
23andMers104893752
23andMe allrs104893752
SNP Nexus

SNPshotrs104893752
SNPdbers104893752
MSV3drs104893752
GWAS Ctlgrs104893752
Max Magnitude0
OMIM605290
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893752(T;T)
Alt rs104893752(T;T)
Reference rs104893752(C;C)
Significance Untested
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193355804C>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000025570.1, SCV000025570.1,