rs80358279

Orientation

plus

Stabilized

plus

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

Make rs80358279(A;A)

Make rs80358279(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40819926

Gene

KCNQ4

is a	snp
is	mentioned by
dbSNP	rs80358279
dbSNP (classic)	rs80358279
ClinGen	rs80358279
ebi	rs80358279
HLI	rs80358279
Exac	rs80358279
Gnomad	rs80358279
Varsome	rs80358279
LitVar	rs80358279
Map	rs80358279
PheGenI	rs80358279
Biobank	rs80358279
1000 genomes	rs80358279
hgdp	rs80358279
ensembl	rs80358279
geneview	rs80358279
scholar	rs80358279
google	rs80358279
pharmgkb	rs80358279
gwascentral	rs80358279
openSNP	rs80358279
23andMe	rs80358279
SNPshot	rs80358279
SNPdbe	rs80358279
MSV3d	rs80358279
GWAS Ctlg	rs80358279

Max Magnitude

0

OMIM	603537
Desc
Variant	0009
Related	also

ClinVar
Risk	rs80358279(A;A)
Alt	rs80358279(A;A)
Reference	Rs80358279(G;G)
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.41285598G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006627.3,

[PMID 18030493] A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.