rs28931595

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	4	Deafness mutation (dominant)
(G;G)	0	common in clinvar

Make rs28931595(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189047

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs28931595
dbSNP (classic)	rs28931595
ClinGen	rs28931595
ebi	rs28931595
HLI	rs28931595
Exac	rs28931595
Gnomad	rs28931595
Varsome	rs28931595
LitVar	rs28931595
Map	rs28931595
PheGenI	rs28931595
Biobank	rs28931595
1000 genomes	rs28931595
hgdp	rs28931595
ensembl	rs28931595
geneview	rs28931595
scholar	rs28931595
google	rs28931595
pharmgkb	rs28931595
gwascentral	rs28931595
openSNP	rs28931595
23andMe	rs28931595
SNPshot	rs28931595
SNPdbe	rs28931595
MSV3d	rs28931595
GWAS Ctlg	rs28931595

Max Magnitude

4

deafness

OMIM	121011
Desc	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3
Variant	0028
Related	also

ClinVar
Risk	rs28931595(A;A) rs28931595(T;T)
Alt	rs28931595(A;A) rs28931595(T;T)
Reference	Rs28931595(G;G)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal dominant 3a
Reversed	1
HGVS	NC_000013.10:g.20763186C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018553.28,