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rs104894923

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894923(A;T)
Make rs104894923(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position83509314
GenePOU3F4
is asnp
is mentioned by
dbSNPrs104894923
dbSNP (classic)rs104894923
ClinGenrs104894923
ebirs104894923
HLIrs104894923
Exacrs104894923
Gnomadrs104894923
Varsomers104894923
LitVarrs104894923
Maprs104894923
PheGenIrs104894923
Biobankrs104894923
1000 genomesrs104894923
hgdprs104894923
ensemblrs104894923
geneviewrs104894923
scholarrs104894923
googlers104894923
pharmgkbrs104894923
gwascentralrs104894923
openSNPrs104894923
23andMers104894923
SNPshotrs104894923
SNPdbers104894923
MSV3drs104894923
GWAS Ctlgrs104894923
Max Magnitude0
OMIM300039
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894923(T;T)
Alt rs104894923(T;T)
Reference Rs104894923(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU3F4
CLNDBN Deafness, X-linked 2
Reversed 0
HGVS NC_000023.10:g.82764322A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012449.17,