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rs180177152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177152(A;A)
Make rs180177152(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107639431
GenePRPS1
is asnp
is mentioned by
dbSNPrs180177152
dbSNP (classic)rs180177152
ClinGenrs180177152
ebirs180177152
HLIrs180177152
Exacrs180177152
Gnomadrs180177152
Varsomers180177152
LitVarrs180177152
Maprs180177152
PheGenIrs180177152
Biobankrs180177152
1000 genomesrs180177152
hgdprs180177152
ensemblrs180177152
geneviewrs180177152
scholarrs180177152
googlers180177152
pharmgkbrs180177152
gwascentralrs180177152
openSNPrs180177152
23andMers180177152
SNPshotrs180177152
SNPdbers180177152
MSV3drs180177152
GWAS Ctlgrs180177152
Max Magnitude0
ClinVar
Risk rs180177152(A;A)
Alt rs180177152(A;A)
Reference Rs180177152(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene PRPS1
CLNDBN Deafness, X-linked 1
Reversed 0
HGVS NC_000023.10:g.106882661G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010617.4,