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rs587777150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777150(C;G)
Make rs587777150(G;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position107640957
GenePRPS1
is asnp
is mentioned by
dbSNPrs587777150
dbSNP (classic)rs587777150
ClinGenrs587777150
ebirs587777150
HLIrs587777150
Exacrs587777150
Gnomadrs587777150
Varsomers587777150
LitVarrs587777150
Maprs587777150
PheGenIrs587777150
Biobankrs587777150
1000 genomesrs587777150
hgdprs587777150
ensemblrs587777150
geneviewrs587777150
scholarrs587777150
googlers587777150
pharmgkbrs587777150
gwascentralrs587777150
openSNPrs587777150
23andMers587777150
SNPshotrs587777150
SNPdbers587777150
MSV3drs587777150
GWAS Ctlgrs587777150
Max Magnitude0
ClinVar
Risk rs587777150(G;G)
Alt rs587777150(G;G)
Reference Rs587777150(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene PRPS1
CLNDBN Charcot-Marie-Tooth disease, X-linked recessive, type 5
Reversed 0
HGVS NC_000023.10:g.106884187C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000087131.5,