Have questions? Visit https://www.reddit.com/r/SNPedia

rs398124631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCTATCCA;GCTATCCA) 0 common in clinvar
Make rs398124631(-;-)
Make rs398124631(-;GCTATCCA)
ReferenceGRCh38 38.1/141
Chromosome5
Position146340307
GenePOU4F3
is asnp
is mentioned by
dbSNPrs398124631
ebirs398124631
HLIrs398124631
Exacrs398124631
Varsomers398124631
Maprs398124631
PheGenIrs398124631
hapmaprs398124631
1000 genomesrs398124631
hgdprs398124631
ensemblrs398124631
gopubmedrs398124631
geneviewrs398124631
scholarrs398124631
googlers398124631
pharmgkbrs398124631
gwascentralrs398124631
openSNPrs398124631
23andMers398124631
23andMe allrs398124631
SNP Nexus

SNPshotrs398124631
SNPdbers398124631
MSV3drs398124631
GWAS Ctlgrs398124631
Max Magnitude0
ClinVar
Risk rs398124631(;)
Alt rs398124631(;)
Reference rs398124631(GCTATCCA;GCTATCCA)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU4F3
CLNDBN Deafness, autosomal dominant 15
Reversed 0
HGVS NC_000005.9:g.145719870_145719877delGCTATCCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000007494.3,