rs797045596

Orientation

minus

Stabilized

minus

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

Make rs797045596(-;-)

Make rs797045596(GAAGTTCATCAAGGGG;GAAGTTCATCAAGGGG)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

20189255

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs797045596
dbSNP (classic)	rs797045596
ClinGen	rs797045596
ebi	rs797045596
HLI	rs797045596
Exac	rs797045596
Gnomad	rs797045596
Varsome	rs797045596
LitVar	rs797045596
Map	rs797045596
PheGenI	rs797045596
Biobank	rs797045596
1000 genomes	rs797045596
hgdp	rs797045596
ensembl	rs797045596
geneview	rs797045596
scholar	rs797045596
google	rs797045596
pharmgkb	rs797045596
gwascentral	rs797045596
openSNP	rs797045596
23andMe	rs797045596
SNPshot	rs797045596
SNPdbe	rs797045596
MSV3d	rs797045596
GWAS Ctlg	rs797045596

Max Magnitude

3

ClinVar
Risk	rs797045596(-;-)
Alt	rs797045596(-;-)
Reference	Rs797045596(AGTTCATCAAGGGGGA;AGTTCATCAAGGGGGA)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A
Reversed	1
HGVS	NC_000013.10:g.20763394_20763409del16
CLNSRC
CLNACC	RCV000194203.1,