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rs398124299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124299(C;T)
Make rs398124299(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position193647144
GeneOPA1
is asnp
is mentioned by
dbSNPrs398124299
ebirs398124299
HLIrs398124299
Exacrs398124299
Varsomers398124299
Maprs398124299
PheGenIrs398124299
hapmaprs398124299
1000 genomesrs398124299
hgdprs398124299
ensemblrs398124299
gopubmedrs398124299
geneviewrs398124299
scholarrs398124299
googlers398124299
pharmgkbrs398124299
gwascentralrs398124299
openSNPrs398124299
23andMers398124299
23andMe allrs398124299
SNP Nexus

SNPshotrs398124299
SNPdbers398124299
MSV3drs398124299
GWAS Ctlgrs398124299
Max Magnitude0
ClinVar
Risk rs398124299(T;T)
Alt rs398124299(T;T)
Reference rs398124299(C;C)
Significance Pathogenic
Disease not provided Dominant hereditary optic atrophy
Variation info
Gene OPA1 LOC101929213
CLNDBN not provided Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193364933C>T
CLNSRC HGMD
CLNACC RCV000081753.5, RCV000175210.1,