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rs387906264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906264(A;G)
Make rs387906264(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position86254816
GeneREEP1
is asnp
is mentioned by
dbSNPrs387906264
dbSNP (classic)rs387906264
ClinGenrs387906264
ebirs387906264
HLIrs387906264
Exacrs387906264
Gnomadrs387906264
Varsomers387906264
LitVarrs387906264
Maprs387906264
PheGenIrs387906264
Biobankrs387906264
1000 genomesrs387906264
hgdprs387906264
ensemblrs387906264
geneviewrs387906264
scholarrs387906264
googlers387906264
pharmgkbrs387906264
gwascentralrs387906264
openSNPrs387906264
23andMers387906264
SNPshotrs387906264
SNPdbers387906264
MSV3drs387906264
GWAS Ctlgrs387906264
Max Magnitude0
ClinVar
Risk rs387906264(G;G)
Alt rs387906264(G;G)
Reference Rs387906264(A;A)
Significance Pathogenic
Disease Spastic paraplegia 31
Variation info
Gene REEP1
CLNDBN Spastic paraplegia 31, autosomal dominant
Reversed 1
HGVS NC_000002.11:g.86481939T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001937.2,