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rs80358276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358276(A;A)
Make rs80358276(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40819459
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs80358276
ebirs80358276
HLIrs80358276
Exacrs80358276
Varsomers80358276
Maprs80358276
PheGenIrs80358276
hapmaprs80358276
1000 genomesrs80358276
hgdprs80358276
ensemblrs80358276
gopubmedrs80358276
geneviewrs80358276
scholarrs80358276
googlers80358276
pharmgkbrs80358276
gwascentralrs80358276
openSNPrs80358276
23andMers80358276
23andMe allrs80358276
SNP Nexus

SNPshotrs80358276
SNPdbers80358276
MSV3drs80358276
GWAS Ctlgrs80358276
Max Magnitude0
OMIM603537
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80358276(A;A)
Alt rs80358276(A;A)
Reference rs80358276(T;T)
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.41285131T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006625.3,


[PMID 10925378] Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.