rs121912968

Orientation

minus

Stabilized

minus

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

Make rs121912968(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189364

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs121912968
dbSNP (classic)	rs121912968
ClinGen	rs121912968
ebi	rs121912968
HLI	rs121912968
Exac	rs121912968
Gnomad	rs121912968
Varsome	rs121912968
LitVar	rs121912968
Map	rs121912968
PheGenI	rs121912968
Biobank	rs121912968
1000 genomes	rs121912968
hgdp	rs121912968
ensembl	rs121912968
geneview	rs121912968
scholar	rs121912968
google	rs121912968
pharmgkb	rs121912968
gwascentral	rs121912968
openSNP	rs121912968
23andMe	rs121912968
SNPshot	rs121912968
SNPdbe	rs121912968
MSV3d	rs121912968
GWAS Ctlg	rs121912968

Max Magnitude

6

OMIM	121011
Desc
Variant	0038
Related	also

ClinVar
Risk	rs121912968(G;G)
Alt	rs121912968(G;G)
Reference	Rs121912968(A;A)
Significance	Pathogenic
Disease	Keratoderma palmoplantar deafness
Variation	info
Gene	GJB2
CLNDBN	Keratoderma palmoplantar deafness
Reversed	1
HGVS	NC_000013.10:g.20763503T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018565.28,