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rs121918262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918262(A;A)
Make rs121918262(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position86282216
GeneREEP1
is asnp
is mentioned by
dbSNPrs121918262
ebirs121918262
HLIrs121918262
Exacrs121918262
Varsomers121918262
Maprs121918262
PheGenIrs121918262
hapmaprs121918262
1000 genomesrs121918262
hgdprs121918262
ensemblrs121918262
gopubmedrs121918262
geneviewrs121918262
scholarrs121918262
googlers121918262
pharmgkbrs121918262
gwascentralrs121918262
openSNPrs121918262
23andMers121918262
23andMe allrs121918262
SNP Nexus

SNPshotrs121918262
SNPdbers121918262
MSV3drs121918262
GWAS Ctlgrs121918262
Max Magnitude0
OMIM609139
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918262(A;A)
Alt rs121918262(A;A)
Reference rs121918262(C;C)
Significance Pathogenic
Disease Spastic paraplegia 31
Variation info
Gene REEP1
CLNDBN Spastic paraplegia 31, autosomal dominant
Reversed 1
HGVS NC_000002.11:g.86509339G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001939.4,