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rs398122848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122848(-;-)
Make rs398122848(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21743752
GeneSMPX
is asnp
is mentioned by
dbSNPrs398122848
dbSNP (classic)rs398122848
ClinGenrs398122848
ebirs398122848
HLIrs398122848
Exacrs398122848
Gnomadrs398122848
Varsomers398122848
LitVarrs398122848
Maprs398122848
PheGenIrs398122848
Biobankrs398122848
1000 genomesrs398122848
hgdprs398122848
ensemblrs398122848
geneviewrs398122848
scholarrs398122848
googlers398122848
pharmgkbrs398122848
gwascentralrs398122848
openSNPrs398122848
23andMers398122848
SNPshotrs398122848
SNPdbers398122848
MSV3drs398122848
GWAS Ctlgrs398122848
Max Magnitude0
ClinVar
Risk rs398122848(-;-)
Alt rs398122848(-;-)
Reference Rs398122848(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene SMPX
CLNDBN Deafness, X-linked 4
Reversed 1
HGVS NC_000023.10:g.21761870delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000022840.12,