rs80358277

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80358277(C;C)

Make rs80358277(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40819465

Gene

KCNQ4

is a	snp
is	mentioned by
dbSNP	rs80358277
dbSNP (classic)	rs80358277
ClinGen	rs80358277
ebi	rs80358277
HLI	rs80358277
Exac	rs80358277
Gnomad	rs80358277
Varsome	rs80358277
LitVar	rs80358277
Map	rs80358277
PheGenI	rs80358277
Biobank	rs80358277
1000 genomes	rs80358277
hgdp	rs80358277
ensembl	rs80358277
geneview	rs80358277
scholar	rs80358277
google	rs80358277
pharmgkb	rs80358277
gwascentral	rs80358277
openSNP	rs80358277
23andMe	rs80358277
SNPshot	rs80358277
SNPdbe	rs80358277
MSV3d	rs80358277
GWAS Ctlg	rs80358277

Max Magnitude

0

OMIM	603537
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80358277(C;C)
Alt	rs80358277(C;C)
Reference	Rs80358277(G;G)
Significance	Pathogenic
Disease	DFNA 2 Nonsyndromic Hearing Loss Nonsyndromic hearing loss and deafness
Variation	info
Gene	KCNQ4
CLNDBN	DFNA 2 Nonsyndromic Hearing Loss Nonsyndromic hearing loss and deafness
Reversed	0
HGVS	NC_000001.10:g.41285137G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006620.4, RCV000211784.1,

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

[PMID 11450843] Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.

[PMID 11915881] Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.

[PMID 12112653] A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.