rs28931593

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	Palmoplantar keratoderma with deafness
(C;C)	0
(G;G)	0	common in clinvar

Make rs28931593(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189358

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs28931593
dbSNP (classic)	rs28931593
ClinGen	rs28931593
ebi	rs28931593
HLI	rs28931593
Exac	rs28931593
Gnomad	rs28931593
Varsome	rs28931593
LitVar	rs28931593
Map	rs28931593
PheGenI	rs28931593
Biobank	rs28931593
1000 genomes	rs28931593
hgdp	rs28931593
ensembl	rs28931593
geneview	rs28931593
scholar	rs28931593
google	rs28931593
pharmgkb	rs28931593
gwascentral	rs28931593
openSNP	rs28931593
23andMe	rs28931593
SNPshot	rs28931593
SNPdbe	rs28931593
MSV3d	rs28931593
GWAS Ctlg	rs28931593

Max Magnitude

6

deafness

OMIM	121011
Desc	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
Variant	0026
Related	also

ClinVar
Risk	rs28931593(A;A)
Alt	rs28931593(A;A)
Reference	Rs28931593(G;G)
Significance	Pathogenic
Disease	Keratoderma palmoplantar deafness Deafness Nonsyndromic hearing loss and deafness not provided
Variation	info
Gene	GJB2
CLNDBN	Keratoderma palmoplantar deafness Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness not provided
Reversed	1
HGVS	NC_000013.10:g.20763497C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018554.27, RCV000018555.28, RCV000210858.1, RCV000211764.1, RCV000254728.1,