rs104894403

Orientation

minus

Stabilized

minus

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

Make rs104894403(C;C)

Make rs104894403(C;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189386

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs104894403
dbSNP (classic)	rs104894403
ClinGen	rs104894403
ebi	rs104894403
HLI	rs104894403
Exac	rs104894403
Gnomad	rs104894403
Varsome	rs104894403
LitVar	rs104894403
Map	rs104894403
PheGenI	rs104894403
Biobank	rs104894403
1000 genomes	rs104894403
hgdp	rs104894403
ensembl	rs104894403
geneview	rs104894403
scholar	rs104894403
google	rs104894403
pharmgkb	rs104894403
gwascentral	rs104894403
openSNP	rs104894403
23andMe	rs104894403
SNPshot	rs104894403
SNPdbe	rs104894403
MSV3d	rs104894403
GWAS Ctlg	rs104894403

Max Magnitude

0

OMIM	121011
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894403(C;C)
Alt	rs104894403(C;C)
Reference	Rs104894403(G;G)
Significance	Pathogenic
Disease	Mutilating keratoderma
Variation	info
Gene	GJB2
CLNDBN	Mutilating keratoderma
Reversed	1
HGVS	NC_000013.10:g.20763525C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018536.30,