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rs869025594

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025594(C;C)
Make rs869025594(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position107628674
GenePRPS1
is asnp
is mentioned by
dbSNPrs869025594
ebirs869025594
HLIrs869025594
Exacrs869025594
Varsomers869025594
Maprs869025594
PheGenIrs869025594
hapmaprs869025594
1000 genomesrs869025594
hgdprs869025594
ensemblrs869025594
gopubmedrs869025594
geneviewrs869025594
scholarrs869025594
googlers869025594
pharmgkbrs869025594
gwascentralrs869025594
openSNPrs869025594
23andMers869025594
23andMe allrs869025594
SNP Nexus

SNPshotrs869025594
SNPdbers869025594
MSV3drs869025594
GWAS Ctlgrs869025594
Max Magnitude0
ClinVar
Risk rs869025594(C;C)
Alt rs869025594(C;C)
Reference rs869025594(T;T)
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.106871904T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208733.1,