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rs28937588

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28937588(A;A)
Make rs28937588(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40819893
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs28937588
ebirs28937588
HLIrs28937588
Exacrs28937588
Varsomers28937588
Maprs28937588
PheGenIrs28937588
hapmaprs28937588
1000 genomesrs28937588
hgdprs28937588
ensemblrs28937588
gopubmedrs28937588
geneviewrs28937588
scholarrs28937588
googlers28937588
pharmgkbrs28937588
gwascentralrs28937588
openSNPrs28937588
23andMers28937588
23andMe allrs28937588
SNP Nexus

SNPshotrs28937588
SNPdbers28937588
MSV3drs28937588
GWAS Ctlgrs28937588
Max Magnitude0
deafness
OMIM603537
DescDEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2
Variant0001
Relatedalso
Neighborrs28937589
Distance431
OMIM603537
Desc
Variant0004
Relatedalso
ClinVar
Risk rs28937588(A,T;A,T)
Alt rs28937588(A,T;A,T)
Reference rs28937588(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.41285565G>A; NC_000001.10:g.41285565G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006619.6, RCV000211722.1, RCV000006622.2,


[PMID 10025409] KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.


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