rs104894415

Orientation

minus

Stabilized

minus

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

Make rs104894415(A;A)

Make rs104894415(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20223450

Gene

GJB6

is a	snp
is	mentioned by
dbSNP	rs104894415
dbSNP (classic)	rs104894415
ClinGen	rs104894415
ebi	rs104894415
HLI	rs104894415
Exac	rs104894415
Gnomad	rs104894415
Varsome	rs104894415
LitVar	rs104894415
Map	rs104894415
PheGenI	rs104894415
Biobank	rs104894415
1000 genomes	rs104894415
hgdp	rs104894415
ensembl	rs104894415
geneview	rs104894415
scholar	rs104894415
google	rs104894415
pharmgkb	rs104894415
gwascentral	rs104894415
openSNP	rs104894415
23andMe	rs104894415
SNPshot	rs104894415
SNPdbe	rs104894415
MSV3d	rs104894415
GWAS Ctlg	rs104894415

Max Magnitude

0

OMIM	604418
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894415(A;A)
Alt	rs104894415(A;A)
Reference	Rs104894415(G;G)
Significance	Pathogenic
Disease	Hidrotic ectodermal dysplasia syndrome Nonsyndromic hearing loss and deafness not provided
Variation	info
Gene	GJB6
CLNDBN	Hidrotic ectodermal dysplasia syndrome Nonsyndromic hearing loss and deafness not provided
Reversed	1
HGVS	NC_000013.10:g.20797589C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005882.2, RCV000168673.2, RCV000255581.1,