rs117385606

Orientation

plus

Stabilized

plus

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

Make rs117385606(A;A)

Make rs117385606(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34785342

Gene	GJB3, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs117385606
dbSNP (classic)	rs117385606
ClinGen	rs117385606
ebi	rs117385606
HLI	rs117385606
Exac	rs117385606
Gnomad	rs117385606
Varsome	rs117385606
LitVar	rs117385606
Map	rs117385606
PheGenI	rs117385606
Biobank	rs117385606
1000 genomes	rs117385606
hgdp	rs117385606
ensembl	rs117385606
geneview	rs117385606
scholar	rs117385606
google	rs117385606
pharmgkb	rs117385606
gwascentral	rs117385606
openSNP	rs117385606
23andMe	rs117385606
SNPshot	rs117385606
SNPdbe	rs117385606
MSV3d	rs117385606
GWAS Ctlg	rs117385606

Merged from

Rs121908852

GMAF

0.002755

Max Magnitude

0

OMIM	603324
Desc
Variant	0012
Related	also

ClinVar
Risk	rs117385606(A;A)
Alt	rs117385606(A;A)
Reference	Rs117385606(G;G)
Significance	Pathogenic
Disease	Deafness Nonsyndromic Hearing Loss Erythrokeratodermia variabilis
Variation	info
Gene	GJB3
CLNDBN	Deafness, digenic, GJB2/GJB3 Nonsyndromic Hearing Loss, Dominant Erythrokeratodermia variabilis
Reversed	0
HGVS	NC_000001.10:g.35250943G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006866.3, RCV000311990.1, RCV000404541.1,