rs28939710

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs28939710(A;A)

Make rs28939710(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40820180

Gene

KCNQ4

is a	snp
is	mentioned by
dbSNP	rs28939710
dbSNP (classic)	rs28939710
ClinGen	rs28939710
ebi	rs28939710
HLI	rs28939710
Exac	rs28939710
Gnomad	rs28939710
Varsome	rs28939710
LitVar	rs28939710
Map	rs28939710
PheGenI	rs28939710
Biobank	rs28939710
1000 genomes	rs28939710
hgdp	rs28939710
ensembl	rs28939710
geneview	rs28939710
scholar	rs28939710
google	rs28939710
pharmgkb	rs28939710
gwascentral	rs28939710
openSNP	rs28939710
23andMe	rs28939710
SNPshot	rs28939710
SNPdbe	rs28939710
MSV3d	rs28939710
GWAS Ctlg	rs28939710

Max Magnitude

0

deafness

OMIM	603537
Desc	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2
Variant	0003
Related	also

ClinVar
Risk	rs28939710(A;A)
Alt	rs28939710(A;A)
Reference	Rs28939710(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.41285852G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006621.3,

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