rs587783647

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;GATA)	3	Carrier of a recessive deafness mutation
(GATA;GATA)	0	common in clinvar

Make rs587783647(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

20188932

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs587783647
dbSNP (classic)	rs587783647
ClinGen	rs587783647
ebi	rs587783647
HLI	rs587783647
Exac	rs587783647
Gnomad	rs587783647
Varsome	rs587783647
LitVar	rs587783647
Map	rs587783647
PheGenI	rs587783647
Biobank	rs587783647
1000 genomes	rs587783647
hgdp	rs587783647
ensembl	rs587783647
geneview	rs587783647
scholar	rs587783647
google	rs587783647
pharmgkb	rs587783647
gwascentral	rs587783647
openSNP	rs587783647
23andMe	rs587783647
SNPshot	rs587783647
SNPdbe	rs587783647
MSV3d	rs587783647
GWAS Ctlg	rs587783647

Max Magnitude

3

ClinVar
Risk	rs587783647(-;-)
Alt	rs587783647(-;-)
Reference	Rs587783647(GATA;GATA)
Significance	Other
Disease	Hearing impairment not provided Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Hearing impairment not provided Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 3a
Reversed	1
HGVS	NC_000013.10:g.20763071_20763074delTATC
CLNSRC	HGMD
CLNACC	RCV000146027.1, RCV000153313.2, RCV000175766.1, RCV000217521.1, RCV000411907.1,