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rs730882189

From SNPedia

Orientationplus
Geno Mag Summary
(GTGA;GTGA) 0 common in clinvar
Make rs730882189(-;-)
Make rs730882189(-;AGTG)
Make rs730882189(AGTG;AGTG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position83509186
GenePOU3F4
is asnp
is mentioned by
dbSNPrs730882189
ebirs730882189
HLIrs730882189
Exacrs730882189
Varsomers730882189
Maprs730882189
PheGenIrs730882189
hapmaprs730882189
1000 genomesrs730882189
hgdprs730882189
ensemblrs730882189
gopubmedrs730882189
geneviewrs730882189
scholarrs730882189
googlers730882189
pharmgkbrs730882189
gwascentralrs730882189
openSNPrs730882189
23andMers730882189
23andMe allrs730882189
SNP Nexus

SNPshotrs730882189
SNPdbers730882189
MSV3drs730882189
GWAS Ctlgrs730882189
Max Magnitude0
ClinVar
Risk rs730882189(;)
Alt rs730882189(;)
Reference rs730882189(GTGA;GTGA)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU3F4
CLNDBN Deafness, X-linked 2
Reversed 0
HGVS NC_000023.10:g.82764194_82764197delAGTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000012447.23,