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rs80358272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358272(-;-)
Make rs80358272(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position40784304
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs80358272
ebirs80358272
HLIrs80358272
Exacrs80358272
Varsomers80358272
Maprs80358272
PheGenIrs80358272
hapmaprs80358272
1000 genomesrs80358272
hgdprs80358272
ensemblrs80358272
gopubmedrs80358272
geneviewrs80358272
scholarrs80358272
googlers80358272
pharmgkbrs80358272
gwascentralrs80358272
openSNPrs80358272
23andMers80358272
23andMe allrs80358272
SNP Nexus

SNPshotrs80358272
SNPdbers80358272
MSV3drs80358272
GWAS Ctlgrs80358272
Max Magnitude0
OMIM603537
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80358272(;)
Alt rs80358272(;)
Reference rs80358272(C;C)
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.41249976delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006626.2,


[PMID 16596322] A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.