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rs200457692

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200457692(C;C)
Make rs200457692(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position106619221
GeneRTN4IP1
is asnp
is mentioned by
dbSNPrs200457692
ebirs200457692
HLIrs200457692
Exacrs200457692
Varsomers200457692
Maprs200457692
PheGenIrs200457692
hapmaprs200457692
1000 genomesrs200457692
hgdprs200457692
ensemblrs200457692
gopubmedrs200457692
geneviewrs200457692
scholarrs200457692
googlers200457692
pharmgkbrs200457692
gwascentralrs200457692
openSNPrs200457692
23andMers200457692
23andMe allrs200457692
SNP Nexus

SNPshotrs200457692
SNPdbers200457692
MSV3drs200457692
GWAS Ctlgrs200457692
Max Magnitude0
ClinVar
Risk rs200457692(A,C;A,C)
Alt rs200457692(A,C;A,C)
Reference rs200457692(T;T)
Significance Pathogenic
Disease Optic atrophy 10 with or without ataxia
Variation info
Gene RTN4IP1
CLNDBN Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Reversed 0
HGVS NC_000006.11:g.107067096T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203281.1,