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rs398122516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398122516(-;-)
Make rs398122516(-;T)
Make rs398122516(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position83509274
GenePOU3F4
is asnp
is mentioned by
dbSNPrs398122516
ebirs398122516
HLIrs398122516
Exacrs398122516
Varsomers398122516
Maprs398122516
PheGenIrs398122516
hapmaprs398122516
1000 genomesrs398122516
hgdprs398122516
ensemblrs398122516
gopubmedrs398122516
geneviewrs398122516
scholarrs398122516
googlers398122516
pharmgkbrs398122516
gwascentralrs398122516
openSNPrs398122516
23andMers398122516
23andMe allrs398122516
SNP Nexus

SNPshotrs398122516
SNPdbers398122516
MSV3drs398122516
GWAS Ctlgrs398122516
Max Magnitude0
ClinVar
Risk rs398122516(T;T)
Alt rs398122516(T;T)
Reference rs398122516(;)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU3F4
CLNDBN Deafness, X-linked 2
Reversed 0
HGVS NC_000023.10:g.82764282dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000034343.17,