rs587783646

Orientation

minus

Stabilized

minus

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

Make rs587783646(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

20188949

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs587783646
dbSNP (classic)	rs587783646
ClinGen	rs587783646
ebi	rs587783646
HLI	rs587783646
Exac	rs587783646
Gnomad	rs587783646
Varsome	rs587783646
LitVar	rs587783646
Map	rs587783646
PheGenI	rs587783646
Biobank	rs587783646
1000 genomes	rs587783646
hgdp	rs587783646
ensembl	rs587783646
geneview	rs587783646
scholar	rs587783646
google	rs587783646
pharmgkb	rs587783646
gwascentral	rs587783646
openSNP	rs587783646
23andMe	rs587783646
SNPshot	rs587783646
SNPdbe	rs587783646
MSV3d	rs587783646
GWAS Ctlg	rs587783646

Max Magnitude

3

ClinVar
Risk	rs587783646(-;-)
Alt	rs587783646(-;-)
Reference	Rs587783646(GT;GT)
Significance	Pathogenic
Disease	Hearing impairment Deafness
Variation	info
Gene	GJB2
CLNDBN	Hearing impairment Deafness, autosomal recessive 1A
Reversed	1
HGVS	NC_000013.10:g.20763088_20763089delAC
CLNSRC
CLNACC	RCV000146026.1, RCV000169500.1,