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rs587781248

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587781248(A;G)
Make rs587781248(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position86217101
GeneREEP1
is asnp
is mentioned by
dbSNPrs587781248
ebirs587781248
HLIrs587781248
Exacrs587781248
Varsomers587781248
Maprs587781248
PheGenIrs587781248
hapmaprs587781248
1000 genomesrs587781248
hgdprs587781248
ensemblrs587781248
gopubmedrs587781248
geneviewrs587781248
scholarrs587781248
googlers587781248
pharmgkbrs587781248
gwascentralrs587781248
openSNPrs587781248
23andMers587781248
23andMe allrs587781248
SNP Nexus

SNPshotrs587781248
SNPdbers587781248
MSV3drs587781248
GWAS Ctlgrs587781248
Max Magnitude0
ClinVar
Risk rs587781248(G;G)
Alt rs587781248(G;G)
Reference rs587781248(A;A)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene REEP1
CLNDBN Charcot-Marie-Tooth disease
Reversed 1
HGVS NC_000002.11:g.86444224T>C
CLNSRC
CLNACC RCV000144873.1,