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rs80358278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358278(C;C)
Make rs80358278(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40819882
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs80358278
ebirs80358278
HLIrs80358278
Exacrs80358278
Varsomers80358278
Maprs80358278
PheGenIrs80358278
hapmaprs80358278
1000 genomesrs80358278
hgdprs80358278
ensemblrs80358278
gopubmedrs80358278
geneviewrs80358278
scholarrs80358278
googlers80358278
pharmgkbrs80358278
gwascentralrs80358278
openSNPrs80358278
23andMers80358278
23andMe allrs80358278
SNP Nexus

SNPshotrs80358278
SNPdbers80358278
MSV3drs80358278
GWAS Ctlgrs80358278
Max Magnitude0
OMIM603537
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80358278(C;C)
Alt rs80358278(C;C)
Reference rs80358278(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.41285554T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006624.2,


[PMID 10571947] Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.