rs786205249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs786205249(-;-) |
Make rs786205249(-;AG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 67458631 |
Gene | CABP4 |
is a | snp |
is | mentioned by |
dbSNP | rs786205249 |
dbSNP (classic) | rs786205249 |
ClinGen | rs786205249 |
ebi | rs786205249 |
HLI | rs786205249 |
Exac | rs786205249 |
Gnomad | rs786205249 |
Varsome | rs786205249 |
LitVar | rs786205249 |
Map | rs786205249 |
PheGenI | rs786205249 |
Biobank | rs786205249 |
1000 genomes | rs786205249 |
hgdp | rs786205249 |
ensembl | rs786205249 |
geneview | rs786205249 |
scholar | rs786205249 |
rs786205249 | |
pharmgkb | rs786205249 |
gwascentral | rs786205249 |
openSNP | rs786205249 |
23andMe | rs786205249 |
SNPshot | rs786205249 |
SNPdbe | rs786205249 |
MSV3d | rs786205249 |
GWAS Ctlg | rs786205249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205249(-;-) |
Alt | rs786205249(-;-) |
Reference | Rs786205249(AG;AG) |
Significance | Pathogenic |
Disease | Congenital stationary night blindness |
Variation | info |
Gene | CABP4 |
CLNDBN | Congenital stationary night blindness, type 2B |
Reversed | 0 |
HGVS | NC_000011.9:g.67226102_67226103delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002029.3, |