rs74315318

Orientation

plus

Stabilized

plus

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

Make rs74315318(A;A)

Make rs74315318(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34785309

Gene	GJB3, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs74315318
dbSNP (classic)	rs74315318
ClinGen	rs74315318
ebi	rs74315318
HLI	rs74315318
Exac	rs74315318
Gnomad	rs74315318
Varsome	rs74315318
LitVar	rs74315318
Map	rs74315318
PheGenI	rs74315318
Biobank	rs74315318
1000 genomes	rs74315318
hgdp	rs74315318
ensembl	rs74315318
geneview	rs74315318
scholar	rs74315318
google	rs74315318
pharmgkb	rs74315318
gwascentral	rs74315318
openSNP	rs74315318
23andMe	rs74315318
SNPshot	rs74315318
SNPdbe	rs74315318
MSV3d	rs74315318
GWAS Ctlg	rs74315318

GMAF

0.001837

Max Magnitude

0

OMIM	603324
Desc
Variant	0004
Related	also

ClinVar
Risk	rs74315318(A;A)
Alt	rs74315318(A;A)
Reference	Rs74315318(G;G)
Significance	Pathogenic
Disease	Deafness not specified Nonsyndromic Hearing Loss Erythrokeratodermia variabilis
Variation	info
Gene	GJB3
CLNDBN	Deafness, autosomal dominant 2b not specified Nonsyndromic Hearing Loss, Dominant Erythrokeratodermia variabilis
Reversed	0
HGVS	NC_000001.10:g.35250910G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006858.5, RCV000175942.1, RCV000285161.1, RCV000377207.1,