rs80358278

Orientation

plus

Stabilized

plus

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

Make rs80358278(C;C)

Make rs80358278(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40819882

Gene

KCNQ4

is a	snp
is	mentioned by
dbSNP	rs80358278
dbSNP (classic)	rs80358278
ClinGen	rs80358278
ebi	rs80358278
HLI	rs80358278
Exac	rs80358278
Gnomad	rs80358278
Varsome	rs80358278
LitVar	rs80358278
Map	rs80358278
PheGenI	rs80358278
Biobank	rs80358278
1000 genomes	rs80358278
hgdp	rs80358278
ensembl	rs80358278
geneview	rs80358278
scholar	rs80358278
google	rs80358278
pharmgkb	rs80358278
gwascentral	rs80358278
openSNP	rs80358278
23andMe	rs80358278
SNPshot	rs80358278
SNPdbe	rs80358278
MSV3d	rs80358278
GWAS Ctlg	rs80358278

Max Magnitude

0

OMIM	603537
Desc
Variant	0006
Related	also

ClinVar
Risk	rs80358278(C;C)
Alt	rs80358278(C;C)
Reference	Rs80358278(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.41285554T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006624.2,

[PMID 10571947] Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.