rs786200886
From SNPedia
Merged into | rs281865175 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGGGCAACTC;AGGGCAACTC) | 0 | common in clinvar |
Make rs786200886(-;-) |
Make rs786200886(-;CAACTCAGGG) |
Make rs786200886(CAACTCAGGG;CAACTCAGGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 197477779 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs786200886 |
dbSNP (classic) | rs786200886 |
ClinGen | rs786200886 |
ebi | rs786200886 |
HLI | rs786200886 |
Exac | rs786200886 |
Gnomad | rs786200886 |
Varsome | rs786200886 |
LitVar | rs786200886 |
Map | rs786200886 |
PheGenI | rs786200886 |
Biobank | rs786200886 |
1000 genomes | rs786200886 |
hgdp | rs786200886 |
ensembl | rs786200886 |
geneview | rs786200886 |
scholar | rs786200886 |
rs786200886 | |
pharmgkb | rs786200886 |
gwascentral | rs786200886 |
openSNP | rs786200886 |
23andMe | rs786200886 |
SNPshot | rs786200886 |
SNPdbe | rs786200886 |
MSV3d | rs786200886 |
GWAS Ctlg | rs786200886 |
Status | Merged into rs281865175 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs786200886(AGGGCAACTC;AGGGCAACTC) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 12 Leber congenital amaurosis 8 not provided |
Variation | info |
Gene | CRB1 |
CLNDBN | Retinitis pigmentosa 12 Leber congenital amaurosis 8 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.197446909_197446918delCAACTCAGGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006095.3, RCV000006096.3, RCV000086353.1, |