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rs80358273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358273(C;G)
Make rs80358273(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40818518
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs80358273
ebirs80358273
HLIrs80358273
Exacrs80358273
Varsomers80358273
Maprs80358273
PheGenIrs80358273
hapmaprs80358273
1000 genomesrs80358273
hgdprs80358273
ensemblrs80358273
gopubmedrs80358273
geneviewrs80358273
scholarrs80358273
googlers80358273
pharmgkbrs80358273
gwascentralrs80358273
openSNPrs80358273
23andMers80358273
23andMe allrs80358273
SNP Nexus

SNPshotrs80358273
SNPdbers80358273
MSV3drs80358273
GWAS Ctlgrs80358273
Max Magnitude0
ClinVar
Risk rs80358273(G;G)
Alt rs80358273(G;G)
Reference rs80358273(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.41284190C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020609.1,


[PMID 17033161] Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.