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rs121918263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918263(C;T)
Make rs121918263(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position86252037
GeneREEP1
is asnp
is mentioned by
dbSNPrs121918263
ebirs121918263
HLIrs121918263
Exacrs121918263
Varsomers121918263
Maprs121918263
PheGenIrs121918263
hapmaprs121918263
1000 genomesrs121918263
hgdprs121918263
ensemblrs121918263
gopubmedrs121918263
geneviewrs121918263
scholarrs121918263
googlers121918263
pharmgkbrs121918263
gwascentralrs121918263
openSNPrs121918263
23andMers121918263
23andMe allrs121918263
SNP Nexus

SNPshotrs121918263
SNPdbers121918263
MSV3drs121918263
GWAS Ctlgrs121918263
Max Magnitude0
OMIM609139
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918263(T;T)
Alt rs121918263(T;T)
Reference Rs121918263(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.86479160G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001940.2,