rs748123571

Orientation

plus

Stabilized

plus

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

Make rs748123571(-;GC)

Make rs748123571(GC;GC)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

40784322

Gene

KCNQ4

is a	snp
is	mentioned by
dbSNP	rs748123571
dbSNP (classic)	rs748123571
ClinGen	rs748123571
ebi	rs748123571
HLI	rs748123571
Exac	rs748123571
Gnomad	rs748123571
Varsome	rs748123571
LitVar	rs748123571
Map	rs748123571
PheGenI	rs748123571
Biobank	rs748123571
1000 genomes	rs748123571
hgdp	rs748123571
ensembl	rs748123571
geneview	rs748123571
scholar	rs748123571
google	rs748123571
pharmgkb	rs748123571
gwascentral	rs748123571
openSNP	rs748123571
23andMe	rs748123571
SNPshot	rs748123571
SNPdbe	rs748123571
MSV3d	rs748123571
GWAS Ctlg	rs748123571

Max Magnitude

0

ClinVar
Risk	rs748123571(GC;GC) rs748123571(T;T)
Alt	rs748123571(GC;GC) rs748123571(T;T)
Reference	Rs748123571(-;-)
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.41249993_41249994dupGC
CLNSRC
CLNACC	RCV000195229.1,