rs886043587
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Chromosome | 1 |
Position | 197344427 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs886043587 |
dbSNP (classic) | rs886043587 |
ClinGen | rs886043587 |
ebi | rs886043587 |
HLI | rs886043587 |
Exac | rs886043587 |
Gnomad | rs886043587 |
Varsome | rs886043587 |
LitVar | rs886043587 |
Map | rs886043587 |
PheGenI | rs886043587 |
Biobank | rs886043587 |
1000 genomes | rs886043587 |
hgdp | rs886043587 |
ensembl | rs886043587 |
geneview | rs886043587 |
scholar | rs886043587 |
rs886043587 | |
pharmgkb | rs886043587 |
gwascentral | rs886043587 |
openSNP | rs886043587 |
23andMe | rs886043587 |
SNPshot | rs886043587 |
SNPdbe | rs886043587 |
MSV3d | rs886043587 |
GWAS Ctlg | rs886043587 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043587(A;A) |
Alt | rs886043587(A;A) |
Reference | Rs886043587(GC;GC) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 12 |
Variation | info |
Gene | CRB1 |
CLNDBN | Retinitis pigmentosa 12 |
Reversed | 0 |
HGVS | NC_000001.10:g.197313557_197313558delGCinsA |
CLNSRC | |
CLNACC | RCV000399049.1, |