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rs387907242

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907242(A;G)
Make rs387907242(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position86252072
GeneREEP1
is asnp
is mentioned by
dbSNPrs387907242
ebirs387907242
HLIrs387907242
Exacrs387907242
Varsomers387907242
Maprs387907242
PheGenIrs387907242
hapmaprs387907242
1000 genomesrs387907242
hgdprs387907242
ensemblrs387907242
gopubmedrs387907242
geneviewrs387907242
scholarrs387907242
googlers387907242
pharmgkbrs387907242
gwascentralrs387907242
openSNPrs387907242
23andMers387907242
23andMe allrs387907242
SNP Nexus

SNPshotrs387907242
SNPdbers387907242
MSV3drs387907242
GWAS Ctlgrs387907242
Max Magnitude0
ClinVar
Risk rs387907242(G;G)
Alt rs387907242(G;G)
Reference rs387907242(A;A)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy type 5B
Variation info
Gene REEP1
CLNDBN Distal hereditary motor neuronopathy type 5B
Reversed 1
HGVS NC_000002.11:g.86479195T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000029244.5,