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rs398122517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122517(-;-)
Make rs398122517(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position83509384
GenePOU3F4
is asnp
is mentioned by
dbSNPrs398122517
ebirs398122517
HLIrs398122517
Exacrs398122517
Varsomers398122517
Maprs398122517
PheGenIrs398122517
hapmaprs398122517
1000 genomesrs398122517
hgdprs398122517
ensemblrs398122517
gopubmedrs398122517
geneviewrs398122517
scholarrs398122517
googlers398122517
pharmgkbrs398122517
gwascentralrs398122517
openSNPrs398122517
23andMers398122517
23andMe allrs398122517
SNP Nexus

SNPshotrs398122517
SNPdbers398122517
MSV3drs398122517
GWAS Ctlgrs398122517
Max Magnitude0
ClinVar
Risk rs398122517(;)
Alt rs398122517(;)
Reference rs398122517(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU3F4
CLNDBN Deafness, X-linked 2
Reversed 0
HGVS NC_000023.10:g.82764392delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000034344.16,