rs104894416

Orientation

minus

Stabilized

minus

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

Make rs104894416(A;A)

Make rs104894416(A;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20223371

Gene

GJB6

is a	snp
is	mentioned by
dbSNP	rs104894416
dbSNP (classic)	rs104894416
ClinGen	rs104894416
ebi	rs104894416
HLI	rs104894416
Exac	rs104894416
Gnomad	rs104894416
Varsome	rs104894416
LitVar	rs104894416
Map	rs104894416
PheGenI	rs104894416
Biobank	rs104894416
1000 genomes	rs104894416
hgdp	rs104894416
ensembl	rs104894416
geneview	rs104894416
scholar	rs104894416
google	rs104894416
pharmgkb	rs104894416
gwascentral	rs104894416
openSNP	rs104894416
23andMe	rs104894416
SNPshot	rs104894416
SNPdbe	rs104894416
MSV3d	rs104894416
GWAS Ctlg	rs104894416

Max Magnitude

0

OMIM	604418
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894416(A;A)
Alt	rs104894416(A;A)
Reference	Rs104894416(T;T)
Significance	Pathogenic
Disease	Hidrotic ectodermal dysplasia syndrome
Variation	info
Gene	GJB6
CLNDBN	Hidrotic ectodermal dysplasia syndrome
Reversed	1
HGVS	NC_000013.10:g.20797510A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005886.3,