rs397516873

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGAT;GGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGAT)	0	common in clinvar

Make rs397516873(-;-)

Make rs397516873(-;GGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGAT)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189514

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs397516873
dbSNP (classic)	rs397516873
ClinGen	rs397516873
ebi	rs397516873
HLI	rs397516873
Exac	rs397516873
Gnomad	rs397516873
Varsome	rs397516873
LitVar	rs397516873
Map	rs397516873
PheGenI	rs397516873
Biobank	rs397516873
1000 genomes	rs397516873
hgdp	rs397516873
ensembl	rs397516873
geneview	rs397516873
scholar	rs397516873
google	rs397516873
pharmgkb	rs397516873
gwascentral	rs397516873
openSNP	rs397516873
23andMe	rs397516873
SNPshot	rs397516873
SNPdbe	rs397516873
MSV3d	rs397516873
GWAS Ctlg	rs397516873

Max Magnitude

0

ClinVar
Risk	rs397516873(-;-)
Alt	rs397516873(-;-)
Reference	Rs397516873(GGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGAT;GGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGAT)
Significance	Pathogenic
Disease	Nonsyndromic hearing loss and deafness Deafness
Variation	info
Gene	GJB2
CLNDBN	Nonsyndromic hearing loss and deafness Deafness, autosomal recessive 1A Deafness, autosomal dominant 3a
Reversed	1
HGVS	NC_000013.10:g.20763653_20763690del38
CLNSRC	ClinVar
CLNACC	RCV000037837.2, RCV000409896.1, RCV000411009.1,