rs111033194

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common/normal
(A;C)	3	Carrier of a recessive deafness mutation

Make rs111033194(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

20188912

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs111033194
dbSNP (classic)	rs111033194
ClinGen	rs111033194
ebi	rs111033194
HLI	rs111033194
Exac	rs111033194
Gnomad	rs111033194
Varsome	rs111033194
LitVar	rs111033194
Map	rs111033194
PheGenI	rs111033194
Biobank	rs111033194
1000 genomes	rs111033194
hgdp	rs111033194
ensembl	rs111033194
geneview	rs111033194
scholar	rs111033194
google	rs111033194
pharmgkb	rs111033194
gwascentral	rs111033194
openSNP	rs111033194
23andMe	rs111033194
SNPshot	rs111033194
SNPdbe	rs111033194
MSV3d	rs111033194
GWAS Ctlg	rs111033194

Max Magnitude

3

ClinVar
Risk	rs111033194(C;C)
Alt	rs111033194(C;C)
Reference	Rs111033194(A;A)
Significance	Unknown
Disease	not specified
Variation	info
Gene	GJB2
CLNDBN	not specified
Reversed	1
HGVS	NC_000013.10:g.20763051T>G
CLNSRC
CLNACC	RCV000037870.3,