rs864309691

Orientation

minus

Stabilized

minus

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

Make rs864309691(C;T)

Make rs864309691(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

20143113

Gene

GJA3

is a	snp
is	mentioned by
dbSNP	rs864309691
dbSNP (classic)	rs864309691
ClinGen	rs864309691
ebi	rs864309691
HLI	rs864309691
Exac	rs864309691
Gnomad	rs864309691
Varsome	rs864309691
LitVar	rs864309691
Map	rs864309691
PheGenI	rs864309691
Biobank	rs864309691
1000 genomes	rs864309691
hgdp	rs864309691
ensembl	rs864309691
geneview	rs864309691
scholar	rs864309691
google	rs864309691
pharmgkb	rs864309691
gwascentral	rs864309691
openSNP	rs864309691
23andMe	rs864309691
SNPshot	rs864309691
SNPdbe	rs864309691
MSV3d	rs864309691
GWAS Ctlg	rs864309691

Max Magnitude

0

ClinVar
Risk	rs864309691(T;T)
Alt	rs864309691(T;T)
Reference	Rs864309691(C;C)
Significance	Pathogenic
Disease	Congenital cataract
Variation	info
Gene	GJA3
CLNDBN	Congenital cataract
Reversed	1
HGVS	NC_000013.10:g.20717252G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000203321.1,