rs864309688
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs864309688(C;C) |
Make rs864309688(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 147908089 |
Gene | GJA8 |
is a | snp |
is | mentioned by |
dbSNP | rs864309688 |
dbSNP (classic) | rs864309688 |
ClinGen | rs864309688 |
ebi | rs864309688 |
HLI | rs864309688 |
Exac | rs864309688 |
Gnomad | rs864309688 |
Varsome | rs864309688 |
LitVar | rs864309688 |
Map | rs864309688 |
PheGenI | rs864309688 |
Biobank | rs864309688 |
1000 genomes | rs864309688 |
hgdp | rs864309688 |
ensembl | rs864309688 |
geneview | rs864309688 |
scholar | rs864309688 |
rs864309688 | |
pharmgkb | rs864309688 |
gwascentral | rs864309688 |
openSNP | rs864309688 |
23andMe | rs864309688 |
SNPshot | rs864309688 |
SNPdbe | rs864309688 |
MSV3d | rs864309688 |
GWAS Ctlg | rs864309688 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309688(C;C) |
Alt | rs864309688(C;C) |
Reference | Rs864309688(G;G) |
Significance | Pathogenic |
Disease | Congenital cataract |
Variation | info |
Gene | GJA8 |
CLNDBN | Congenital cataract |
Reversed | 0 |
HGVS | NC_000001.10:g.147380216G>C |
CLNSRC | |
CLNACC | RCV000203313.1, |