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rs869025593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869025593(A;C)
Make rs869025593(C;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position107647731
GenePRPS1
is asnp
is mentioned by
dbSNPrs869025593
dbSNP (classic)rs869025593
ClinGenrs869025593
ebirs869025593
HLIrs869025593
Exacrs869025593
Gnomadrs869025593
Varsomers869025593
LitVarrs869025593
Maprs869025593
PheGenIrs869025593
Biobankrs869025593
1000 genomesrs869025593
hgdprs869025593
ensemblrs869025593
geneviewrs869025593
scholarrs869025593
googlers869025593
pharmgkbrs869025593
gwascentralrs869025593
openSNPrs869025593
23andMers869025593
SNPshotrs869025593
SNPdbers869025593
MSV3drs869025593
GWAS Ctlgrs869025593
Max Magnitude0
ClinVar
Risk rs869025593(C;C)
Alt rs869025593(C;C)
Reference Rs869025593(A;A)
Significance Pathogenic
Disease Deafness Arts syndrome
Variation info
Gene PRPS1
CLNDBN Deafness, X-linked 1 Arts syndrome
Reversed 0
HGVS NC_000023.10:g.106890961A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208721.1, RCV000208743.1,