rs80358203

Orientation

plus

Stabilized

plus

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

Make rs80358203(C;C)

Make rs80358203(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

147908023

Gene

GJA8

is a	snp
is	mentioned by
dbSNP	rs80358203
dbSNP (classic)	rs80358203
ClinGen	rs80358203
ebi	rs80358203
HLI	rs80358203
Exac	rs80358203
Gnomad	rs80358203
Varsome	rs80358203
LitVar	rs80358203
Map	rs80358203
PheGenI	rs80358203
Biobank	rs80358203
1000 genomes	rs80358203
hgdp	rs80358203
ensembl	rs80358203
geneview	rs80358203
scholar	rs80358203
google	rs80358203
pharmgkb	rs80358203
gwascentral	rs80358203
openSNP	rs80358203
23andMe	rs80358203
SNPshot	rs80358203
SNPdbe	rs80358203
MSV3d	rs80358203
GWAS Ctlg	rs80358203

Max Magnitude

0

OMIM	600897
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80358203(C;C)
Alt	rs80358203(C;C)
Reference	Rs80358203(G;G)
Significance	Pathogenic
Disease	Cataract 1
Variation	info
Gene	GJA8
CLNDBN	Cataract 1
Reversed	0
HGVS	NC_000001.10:g.147380150G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009262.3,