rs80358271

Orientation

plus

Stabilized

plus

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

Make rs80358271(-;-)

Make rs80358271(-;CAGCGCTCCTCGG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40784304

Gene

KCNQ4

is a	snp
is	mentioned by
dbSNP	rs80358271
dbSNP (classic)	rs80358271
ClinGen	rs80358271
ebi	rs80358271
HLI	rs80358271
Exac	rs80358271
Gnomad	rs80358271
Varsome	rs80358271
LitVar	rs80358271
Map	rs80358271
PheGenI	rs80358271
Biobank	rs80358271
1000 genomes	rs80358271
hgdp	rs80358271
ensembl	rs80358271
geneview	rs80358271
scholar	rs80358271
google	rs80358271
pharmgkb	rs80358271
gwascentral	rs80358271
openSNP	rs80358271
23andMe	rs80358271
SNPshot	rs80358271
SNPdbe	rs80358271
MSV3d	rs80358271
GWAS Ctlg	rs80358271

Max Magnitude

0

OMIM	603537
Desc
Variant	0005
Related	also

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	RCV000006623.3,

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