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rs587781262

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587781262(A;G)
Make rs587781262(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position107640938
GenePRPS1
is asnp
is mentioned by
dbSNPrs587781262
ebirs587781262
HLIrs587781262
Exacrs587781262
Varsomers587781262
Maprs587781262
PheGenIrs587781262
hapmaprs587781262
1000 genomesrs587781262
hgdprs587781262
ensemblrs587781262
gopubmedrs587781262
geneviewrs587781262
scholarrs587781262
googlers587781262
pharmgkbrs587781262
gwascentralrs587781262
openSNPrs587781262
23andMers587781262
23andMe allrs587781262
SNP Nexus

SNPshotrs587781262
SNPdbers587781262
MSV3drs587781262
GWAS Ctlgrs587781262
Max Magnitude0
ClinVar
Risk rs587781262(G;G)
Alt rs587781262(G;G)
Reference rs587781262(A;A)
Significance Pathogenic
Disease Deafness Charcot-Marie-Tooth disease
Variation info
Gene PRPS1
CLNDBN Deafness, X-linked 1 Charcot-Marie-Tooth disease, X-linked recessive, type 5
Reversed 0
HGVS NC_000023.10:g.106884168A>G
CLNSRC OMIM Allelic Variant VariO
CLNACC RCV000143858.1, RCV000143859.2,