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rs80358277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358277(C;C)
Make rs80358277(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40819465
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs80358277
ebirs80358277
HLIrs80358277
Exacrs80358277
Varsomers80358277
Maprs80358277
PheGenIrs80358277
hapmaprs80358277
1000 genomesrs80358277
hgdprs80358277
ensemblrs80358277
gopubmedrs80358277
geneviewrs80358277
scholarrs80358277
googlers80358277
pharmgkbrs80358277
gwascentralrs80358277
openSNPrs80358277
23andMers80358277
23andMe allrs80358277
SNP Nexus

SNPshotrs80358277
SNPdbers80358277
MSV3drs80358277
GWAS Ctlgrs80358277
Max Magnitude0
OMIM603537
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80358277(C;C)
Alt rs80358277(C;C)
Reference rs80358277(G;G)
Significance Pathogenic
Disease DFNA 2 Nonsyndromic Hearing Loss Non-syndromic genetic deafness
Variation info
Gene KCNQ4
CLNDBN DFNA 2 Nonsyndromic Hearing Loss Non-syndromic genetic deafness
Reversed 0
HGVS NC_000001.10:g.41285137G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006620.3, RCV000211784.1,


[PMID 10369879] Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.


[PMID 11450843] Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.


[PMID 11915881] Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.


[PMID 12112653] A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.