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rs104894921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894921(G;G)
Make rs104894921(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position83509274
GenePOU3F4
is asnp
is mentioned by
dbSNPrs104894921
dbSNP (classic)rs104894921
ClinGenrs104894921
ebirs104894921
HLIrs104894921
Exacrs104894921
Gnomadrs104894921
Varsomers104894921
LitVarrs104894921
Maprs104894921
PheGenIrs104894921
Biobankrs104894921
1000 genomesrs104894921
hgdprs104894921
ensemblrs104894921
geneviewrs104894921
scholarrs104894921
googlers104894921
pharmgkbrs104894921
gwascentralrs104894921
openSNPrs104894921
23andMers104894921
SNPshotrs104894921
SNPdbers104894921
MSV3drs104894921
GWAS Ctlgrs104894921
Max Magnitude0
OMIM300039
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894921(G;G)
Alt rs104894921(G;G)
Reference Rs104894921(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU3F4
CLNDBN Deafness, X-linked 2
Reversed 0
HGVS NC_000023.10:g.82764282T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012445.17,