rs104894414

Orientation

minus

Stabilized

minus

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

Make rs104894414(C;T)

Make rs104894414(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20223467

Gene

GJB6

is a	snp
is	mentioned by
dbSNP	rs104894414
dbSNP (classic)	rs104894414
ClinGen	rs104894414
ebi	rs104894414
HLI	rs104894414
Exac	rs104894414
Gnomad	rs104894414
Varsome	rs104894414
LitVar	rs104894414
Map	rs104894414
PheGenI	rs104894414
Biobank	rs104894414
1000 genomes	rs104894414
hgdp	rs104894414
ensembl	rs104894414
geneview	rs104894414
scholar	rs104894414
google	rs104894414
pharmgkb	rs104894414
gwascentral	rs104894414
openSNP	rs104894414
23andMe	rs104894414
SNPshot	rs104894414
SNPdbe	rs104894414
MSV3d	rs104894414
GWAS Ctlg	rs104894414

Max Magnitude

0

OMIM	604418
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894414(T;T)
Alt	rs104894414(T;T)
Reference	Rs104894414(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	GJB6
CLNDBN	Deafness, autosomal dominant 3b
Reversed	1
HGVS	NC_000013.10:g.20797606G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000088666.3,