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rs28939710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28939710(A;A)
Make rs28939710(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40820180
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs28939710
ebirs28939710
HLIrs28939710
Exacrs28939710
Varsomers28939710
Maprs28939710
PheGenIrs28939710
hapmaprs28939710
1000 genomesrs28939710
hgdprs28939710
ensemblrs28939710
gopubmedrs28939710
geneviewrs28939710
scholarrs28939710
googlers28939710
pharmgkbrs28939710
gwascentralrs28939710
openSNPrs28939710
23andMers28939710
23andMe allrs28939710
SNP Nexus

SNPshotrs28939710
SNPdbers28939710
MSV3drs28939710
GWAS Ctlgrs28939710
Max Magnitude0
deafness
OMIM603537
DescDEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2
Variant0003
Relatedalso
ClinVar
Risk rs28939710(A;A)
Alt rs28939710(A;A)
Reference rs28939710(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.41285852G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006621.2,


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