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rs869312880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 7.1 Hereditary spastic paraplegia, type 31
(G;G) 0 common in clinvar


Make rs869312880(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position86232624
GeneREEP1
is asnp
is mentioned by
dbSNPrs869312880
dbSNP (old)rs869312880
ClinGenrs869312880
ebirs869312880
HLIrs869312880
Exacrs869312880
Gnomadrs869312880
Varsomers869312880
Maprs869312880
PheGenIrs869312880
Biobankrs869312880
1000 genomesrs869312880
hgdprs869312880
ensemblrs869312880
gopubmedrs869312880
geneviewrs869312880
scholarrs869312880
googlers869312880
pharmgkbrs869312880
gwascentralrs869312880
openSNPrs869312880
23andMers869312880
23andMe allrs869312880
SNP Nexus

SNPshotrs869312880
SNPdbers869312880
MSV3drs869312880
GWAS Ctlgrs869312880
Max Magnitude7.1

rs869312880, also known as c.595+1G>A, represents a rare mutation in the REEP1 gene on chromosome 2.

Inherited as an autosomal dominant, the minor allele is considered pathogenic for a type of hereditary spastic paraplegia, listed in OMIM as Spastic paraplegia 31. [PMID 28099355OA-icon.png]

ClinVar
Risk rs869312880(A;A)
Alt rs869312880(A;A)
Reference Rs869312880(G;G)
Significance Pathogenic
Disease Spastic paraplegia 31
Variation info
Gene REEP1
CLNDBN Spastic paraplegia 31, autosomal dominant
Reversed 1
HGVS NC_000002.11:g.86459747C>T
CLNSRC
CLNACC RCV000210477.1,