Have questions? Visit https://www.reddit.com/r/SNPedia

rs372054380

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs372054380(C;T)
Make rs372054380(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position106622936
GeneRTN4IP1
is asnp
is mentioned by
dbSNPrs372054380
ebirs372054380
HLIrs372054380
Exacrs372054380
Varsomers372054380
Maprs372054380
PheGenIrs372054380
hapmaprs372054380
1000 genomesrs372054380
hgdprs372054380
ensemblrs372054380
gopubmedrs372054380
geneviewrs372054380
scholarrs372054380
googlers372054380
pharmgkbrs372054380
gwascentralrs372054380
openSNPrs372054380
23andMers372054380
23andMe allrs372054380
SNP Nexus

SNPshotrs372054380
SNPdbers372054380
MSV3drs372054380
GWAS Ctlgrs372054380
Max Magnitude0
ClinVar
Risk rs372054380(T;T)
Alt rs372054380(T;T)
Reference rs372054380(C;C)
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.107070811C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203278.1,