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

rs121908134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908134(A;C)
Make rs121908134(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position6451926
GeneESPN
is asnp
is mentioned by
dbSNPrs121908134
ebirs121908134
HLIrs121908134
Exacrs121908134
Varsomers121908134
Maprs121908134
PheGenIrs121908134
hapmaprs121908134
1000 genomesrs121908134
hgdprs121908134
ensemblrs121908134
gopubmedrs121908134
geneviewrs121908134
scholarrs121908134
googlers121908134
pharmgkbrs121908134
gwascentralrs121908134
openSNPrs121908134
23andMers121908134
23andMe allrs121908134
SNP Nexus

SNPshotrs121908134
SNPdbers121908134
MSV3drs121908134
GWAS Ctlgrs121908134
Max Magnitude0
OMIM606351
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908134(C;C)
Alt rs121908134(C;C)
Reference rs121908134(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene ESPN
CLNDBN Deafness, without vestibular involvement, autosomal dominant
Reversed 0
HGVS NC_000001.10:g.6511986A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004670.2,