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rs121908135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908135(A;A)
Make rs121908135(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position6452001
GeneESPN
is asnp
is mentioned by
dbSNPrs121908135
ebirs121908135
HLIrs121908135
Exacrs121908135
Varsomers121908135
Maprs121908135
PheGenIrs121908135
hapmaprs121908135
1000 genomesrs121908135
hgdprs121908135
ensemblrs121908135
gopubmedrs121908135
geneviewrs121908135
scholarrs121908135
googlers121908135
pharmgkbrs121908135
gwascentralrs121908135
openSNPrs121908135
23andMers121908135
23andMe allrs121908135
SNP Nexus

SNPshotrs121908135
SNPdbers121908135
MSV3drs121908135
GWAS Ctlgrs121908135
Max Magnitude0
OMIM606351
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908135(A,T;A,T)
Alt rs121908135(A,T;A,T)
Reference rs121908135(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene ESPN
CLNDBN Deafness, without vestibular involvement, autosomal dominant
Reversed 0
HGVS NC_000001.10:g.6512061G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004671.2,