rs80358276

Orientation

plus

Stabilized

plus

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

Make rs80358276(A;A)

Make rs80358276(A;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40819459

Gene

KCNQ4

is a	snp
is	mentioned by
dbSNP	rs80358276
dbSNP (classic)	rs80358276
ClinGen	rs80358276
ebi	rs80358276
HLI	rs80358276
Exac	rs80358276
Gnomad	rs80358276
Varsome	rs80358276
LitVar	rs80358276
Map	rs80358276
PheGenI	rs80358276
Biobank	rs80358276
1000 genomes	rs80358276
hgdp	rs80358276
ensembl	rs80358276
geneview	rs80358276
scholar	rs80358276
google	rs80358276
pharmgkb	rs80358276
gwascentral	rs80358276
openSNP	rs80358276
23andMe	rs80358276
SNPshot	rs80358276
SNPdbe	rs80358276
MSV3d	rs80358276
GWAS Ctlg	rs80358276

Max Magnitude

0

OMIM	603537
Desc
Variant	0007
Related	also

ClinVar
Risk	rs80358276(A;A)
Alt	rs80358276(A;A)
Reference	Rs80358276(T;T)
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.41285131T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006625.4,

[PMID 10925378] Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.