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rs121908136

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908136(A;A)
Make rs121908136(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position6452092
GeneESPN
is asnp
is mentioned by
dbSNPrs121908136
ebirs121908136
HLIrs121908136
Exacrs121908136
Varsomers121908136
Maprs121908136
PheGenIrs121908136
hapmaprs121908136
1000 genomesrs121908136
hgdprs121908136
ensemblrs121908136
gopubmedrs121908136
geneviewrs121908136
scholarrs121908136
googlers121908136
pharmgkbrs121908136
gwascentralrs121908136
openSNPrs121908136
23andMers121908136
23andMe allrs121908136
SNP Nexus

SNPshotrs121908136
SNPdbers121908136
MSV3drs121908136
GWAS Ctlgrs121908136
Max Magnitude0
OMIM606351
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908136(A;A)
Alt rs121908136(A;A)
Reference rs121908136(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene ESPN
CLNDBN Deafness, without vestibular involvement, autosomal dominant
Reversed 0
HGVS NC_000001.10:g.6512152G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004672.2,