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rs587781263

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587781263(G;T)
Make rs587781263(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position107650000
GenePRPS1
is asnp
is mentioned by
dbSNPrs587781263
dbSNP (classic)rs587781263
ClinGenrs587781263
ebirs587781263
HLIrs587781263
Exacrs587781263
Gnomadrs587781263
Varsomers587781263
LitVarrs587781263
Maprs587781263
PheGenIrs587781263
Biobankrs587781263
1000 genomesrs587781263
hgdprs587781263
ensemblrs587781263
geneviewrs587781263
scholarrs587781263
googlers587781263
pharmgkbrs587781263
gwascentralrs587781263
openSNPrs587781263
23andMers587781263
SNPshotrs587781263
SNPdbers587781263
MSV3drs587781263
GWAS Ctlgrs587781263
Max Magnitude0
ClinVar
Risk rs587781263(T;T)
Alt rs587781263(T;T)
Reference Rs587781263(G;G)
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.106893230G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000143860.3,