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

rs1801002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a recessive deafness mutation
(GT;GT) 0 common in clinvar
(I;I) 0
Make rs1801002(-;-)
Make rs1801002(-;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189547
GeneGJB2
is asnp
is mentioned by
dbSNPrs1801002
ebirs1801002
HLIrs1801002
Exacrs1801002
Varsomers1801002
Maprs1801002
PheGenIrs1801002
hapmaprs1801002
1000 genomesrs1801002
hgdprs1801002
ensemblrs1801002
gopubmedrs1801002
geneviewrs1801002
scholarrs1801002
googlers1801002
pharmgkbrs1801002
gwascentralrs1801002
openSNPrs1801002
23andMers1801002
23andMe allrs1801002
SNP Nexus

SNPshotrs1801002
SNPdbers1801002
MSV3drs1801002
GWAS Ctlgrs1801002
Max Magnitude3
ClinVar
Risk rs1801002(A,T;A,T)
Alt rs1801002(A,T;A,T)
Reference rs1801002(G;G)
Significance Pathogenic
Disease Deafness not provided Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A not provided Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763686C>A
CLNSRC HGMD
CLNACC RCV000020570.6, RCV000080372.3, RCV000146020.1, RCV000211720.1,



[PMID 16380907OA-icon.png] GJB2 mutations and degree of hearing loss: a multicenter study.


GET Evidence
GJB2-G12Shift
aa_change Gly12Shift
aa_change_short G12Shift
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0078125
summary