rs786200895

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(ACG;ACG)	0	common in clinvar
(GAC;GAC)	0	common in clinvar
(I;I)	0	common genotype

Make rs786200895(-;-)

Make rs786200895(-;GAC)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

34784958

Gene	GJB3, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs786200895
dbSNP (classic)	rs786200895
ClinGen	rs786200895
ebi	rs786200895
HLI	rs786200895
Exac	rs786200895
Gnomad	rs786200895
Varsome	rs786200895
LitVar	rs786200895
Map	rs786200895
PheGenI	rs786200895
Biobank	rs786200895
1000 genomes	rs786200895
hgdp	rs786200895
ensembl	rs786200895
geneview	rs786200895
scholar	rs786200895
google	rs786200895
pharmgkb	rs786200895
gwascentral	rs786200895
openSNP	rs786200895
23andMe	rs786200895
SNPshot	rs786200895
SNPdbe	rs786200895
MSV3d	rs786200895
GWAS Ctlg	rs786200895

Max Magnitude

0

ClinVar
Risk	rs786200895(-;-) Rs786200895(ACG;ACG)
Alt	rs786200895(-;-) Rs786200895(ACG;ACG)
Reference	Rs786200895(GAC;GAC)
Significance	Pathogenic
Disease	Deafness not specified
Variation	info
Gene	GJB3
CLNDBN	Deafness, autosomal dominant, with peripheral neuropathy not specified
Reversed	0
HGVS	NC_000001.10:g.35250559_35250561delGAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006863.4, RCV000345579.1,