rs28937872

Orientation

minus

Stabilized

minus

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

Make rs28937872(C;T)

Make rs28937872(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20223218

Gene

GJB6

is a	snp
is	mentioned by
dbSNP	rs28937872
dbSNP (classic)	rs28937872
ClinGen	rs28937872
ebi	rs28937872
HLI	rs28937872
Exac	rs28937872
Gnomad	rs28937872
Varsome	rs28937872
LitVar	rs28937872
Map	rs28937872
PheGenI	rs28937872
Biobank	rs28937872
1000 genomes	rs28937872
hgdp	rs28937872
ensembl	rs28937872
geneview	rs28937872
scholar	rs28937872
google	rs28937872
pharmgkb	rs28937872
gwascentral	rs28937872
openSNP	rs28937872
23andMe	rs28937872
SNPshot	rs28937872
SNPdbe	rs28937872
MSV3d	rs28937872
GWAS Ctlg	rs28937872

Max Magnitude

0

OMIM	604418
Desc	ECTODERMAL DYSPLASIA, HIDROTIC
Variant	0003
Related	also

ClinVar
Risk	rs28937872(T;T)
Alt	rs28937872(T;T)
Reference	Rs28937872(C;C)
Significance	Pathogenic
Disease	Hidrotic ectodermal dysplasia syndrome
Variation	info
Gene	GJB6
CLNDBN	Hidrotic ectodermal dysplasia syndrome
Reversed	1
HGVS	NC_000013.10:g.20797357G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005883.2,