rs80358273

Orientation

plus

Stabilized

plus

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

Make rs80358273(C;G)

Make rs80358273(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40818518

Gene

KCNQ4

is a	snp
is	mentioned by
dbSNP	rs80358273
dbSNP (classic)	rs80358273
ClinGen	rs80358273
ebi	rs80358273
HLI	rs80358273
Exac	rs80358273
Gnomad	rs80358273
Varsome	rs80358273
LitVar	rs80358273
Map	rs80358273
PheGenI	rs80358273
Biobank	rs80358273
1000 genomes	rs80358273
hgdp	rs80358273
ensembl	rs80358273
geneview	rs80358273
scholar	rs80358273
google	rs80358273
pharmgkb	rs80358273
gwascentral	rs80358273
openSNP	rs80358273
23andMe	rs80358273
SNPshot	rs80358273
SNPdbe	rs80358273
MSV3d	rs80358273
GWAS Ctlg	rs80358273

Max Magnitude

0

ClinVar
Risk	rs80358273(G;G)
Alt	rs80358273(G;G)
Reference	Rs80358273(C;C)
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.41284190C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020609.1,

[PMID 17033161] Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.