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rs80358279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358279(A;A)
Make rs80358279(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40819926
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs80358279
ebirs80358279
HLIrs80358279
Exacrs80358279
Varsomers80358279
Maprs80358279
PheGenIrs80358279
hapmaprs80358279
1000 genomesrs80358279
hgdprs80358279
ensemblrs80358279
gopubmedrs80358279
geneviewrs80358279
scholarrs80358279
googlers80358279
pharmgkbrs80358279
gwascentralrs80358279
openSNPrs80358279
23andMers80358279
23andMe allrs80358279
SNP Nexus

SNPshotrs80358279
SNPdbers80358279
MSV3drs80358279
GWAS Ctlgrs80358279
Max Magnitude0
OMIM603537
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80358279(A;A)
Alt rs80358279(A;A)
Reference rs80358279(G;G)
Significance Pathogenic
Disease DFNA 2 Nonsyndromic Hearing Loss
Variation info
Gene KCNQ4
CLNDBN DFNA 2 Nonsyndromic Hearing Loss
Reversed 0
HGVS NC_000001.10:g.41285598G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006627.2,


[PMID 18030493] A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.