rs864309707
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864309707(-;-) |
Make rs864309707(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 47839724 |
Gene | CRX |
is a | snp |
is | mentioned by |
dbSNP | rs864309707 |
dbSNP (classic) | rs864309707 |
ClinGen | rs864309707 |
ebi | rs864309707 |
HLI | rs864309707 |
Exac | rs864309707 |
Gnomad | rs864309707 |
Varsome | rs864309707 |
LitVar | rs864309707 |
Map | rs864309707 |
PheGenI | rs864309707 |
Biobank | rs864309707 |
1000 genomes | rs864309707 |
hgdp | rs864309707 |
ensembl | rs864309707 |
geneview | rs864309707 |
scholar | rs864309707 |
rs864309707 | |
pharmgkb | rs864309707 |
gwascentral | rs864309707 |
openSNP | rs864309707 |
23andMe | rs864309707 |
SNPshot | rs864309707 |
SNPdbe | rs864309707 |
MSV3d | rs864309707 |
GWAS Ctlg | rs864309707 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309707(-;-) |
Alt | rs864309707(-;-) |
Reference | Rs864309707(C;C) |
Significance | Pathogenic |
Disease | Bull's eye maculopathy |
Variation | info |
Gene | CRX |
CLNDBN | Bull's eye maculopathy |
Reversed | 0 |
HGVS | NC_000019.9:g.48342981delC |
CLNSRC | |
CLNACC | RCV000203269.1, |