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rs387906263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906263(-;-)
Make rs387906263(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position86232708
GeneREEP1
is asnp
is mentioned by
dbSNPrs387906263
ebirs387906263
HLIrs387906263
Exacrs387906263
Varsomers387906263
Maprs387906263
PheGenIrs387906263
hapmaprs387906263
1000 genomesrs387906263
hgdprs387906263
ensemblrs387906263
gopubmedrs387906263
geneviewrs387906263
scholarrs387906263
googlers387906263
pharmgkbrs387906263
gwascentralrs387906263
openSNPrs387906263
23andMers387906263
23andMe allrs387906263
SNP Nexus

SNPshotrs387906263
SNPdbers387906263
MSV3drs387906263
GWAS Ctlgrs387906263
Max Magnitude0
ClinVar
Risk rs387906263(;)
Alt rs387906263(;)
Reference rs387906263(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.86459831delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001936.2,