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rs398122930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122930(-;-)
Make rs398122930(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21743783
GeneSMPX
is asnp
is mentioned by
dbSNPrs398122930
dbSNP (classic)rs398122930
ClinGenrs398122930
ebirs398122930
HLIrs398122930
Exacrs398122930
Gnomadrs398122930
Varsomers398122930
LitVarrs398122930
Maprs398122930
PheGenIrs398122930
Biobankrs398122930
1000 genomesrs398122930
hgdprs398122930
ensemblrs398122930
geneviewrs398122930
scholarrs398122930
googlers398122930
pharmgkbrs398122930
gwascentralrs398122930
openSNPrs398122930
23andMers398122930
SNPshotrs398122930
SNPdbers398122930
MSV3drs398122930
GWAS Ctlgrs398122930
Max Magnitude0
ClinVar
Risk rs398122930(-;-)
Alt rs398122930(-;-)
Reference Rs398122930(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene SMPX
CLNDBN Deafness, X-linked 4
Reversed 1
HGVS NC_000023.10:g.21761901delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000033153.12,