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rs80358271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGCGCTCCTCGG;CAGCGCTCCTCGG) 0 common in clinvar
Make rs80358271(-;-)
Make rs80358271(-;CAGCGCTCCTCGG)
ReferenceGRCh38 38.1/141
Chromosome1
Position40784304
GeneKCNQ4
is asnp
is mentioned by
dbSNPrs80358271
ebirs80358271
HLIrs80358271
Exacrs80358271
Varsomers80358271
Maprs80358271
PheGenIrs80358271
hapmaprs80358271
1000 genomesrs80358271
hgdprs80358271
ensemblrs80358271
gopubmedrs80358271
geneviewrs80358271
scholarrs80358271
googlers80358271
pharmgkbrs80358271
gwascentralrs80358271
openSNPrs80358271
23andMers80358271
23andMe allrs80358271
SNP Nexus

SNPshotrs80358271
SNPdbers80358271
MSV3drs80358271
GWAS Ctlgrs80358271
Max Magnitude0
OMIM603537
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80358271(;)
Alt rs80358271(;)
Reference rs80358271(CAGCGCTCCTCGG;CAGCGCTCCTCGG)
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.41249976_41249988delCAGCGCTCCTCGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000006623.2,


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