rs397516875

Orientation

minus

Stabilized

minus

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

Make rs397516875(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

20189197

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs397516875
dbSNP (classic)	rs397516875
ClinGen	rs397516875
ebi	rs397516875
HLI	rs397516875
Exac	rs397516875
Gnomad	rs397516875
Varsome	rs397516875
LitVar	rs397516875
Map	rs397516875
PheGenI	rs397516875
Biobank	rs397516875
1000 genomes	rs397516875
hgdp	rs397516875
ensembl	rs397516875
geneview	rs397516875
scholar	rs397516875
google	rs397516875
pharmgkb	rs397516875
gwascentral	rs397516875
openSNP	rs397516875
23andMe	rs397516875
SNPshot	rs397516875
SNPdbe	rs397516875
MSV3d	rs397516875
GWAS Ctlg	rs397516875

Max Magnitude

3

ClinVar
Risk	rs397516875(A;A) rs397516875(T;T)
Alt	rs397516875(A;A) rs397516875(T;T)
Reference	Rs397516875(G;G)
Significance	Pathogenic
Disease	Deafness not specified
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A not specified
Reversed	1
HGVS	NC_000013.10:g.20763336C>A; NC_000013.10:g.20763336C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000416724.1, RCV000037849.2,