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rs387906900

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906900(G;T)
Make rs387906900(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position193643978
GeneOPA1
is asnp
is mentioned by
dbSNPrs387906900
ebirs387906900
HLIrs387906900
Exacrs387906900
Varsomers387906900
Maprs387906900
PheGenIrs387906900
hapmaprs387906900
1000 genomesrs387906900
hgdprs387906900
ensemblrs387906900
gopubmedrs387906900
geneviewrs387906900
scholarrs387906900
googlers387906900
pharmgkbrs387906900
gwascentralrs387906900
openSNPrs387906900
23andMers387906900
23andMe allrs387906900
SNP Nexus

SNPshotrs387906900
SNPdbers387906900
MSV3drs387906900
GWAS Ctlgrs387906900
Max Magnitude0
ClinVar
Risk rs387906900(T;T)
Alt rs387906900(T;T)
Reference rs387906900(G;G)
Significance Pathogenic
Disease Optic Atrophy Type 1
Variation info
Gene OPA1
CLNDBN Optic Atrophy Type 1
Reversed 0
HGVS NC_000003.11:g.193361767G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023416.3,