rs587783015
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587783015(A;A) |
Make rs587783015(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 197356840 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587783015 |
dbSNP (classic) | rs587783015 |
ClinGen | rs587783015 |
ebi | rs587783015 |
HLI | rs587783015 |
Exac | rs587783015 |
Gnomad | rs587783015 |
Varsome | rs587783015 |
LitVar | rs587783015 |
Map | rs587783015 |
PheGenI | rs587783015 |
Biobank | rs587783015 |
1000 genomes | rs587783015 |
hgdp | rs587783015 |
ensembl | rs587783015 |
geneview | rs587783015 |
scholar | rs587783015 |
rs587783015 | |
pharmgkb | rs587783015 |
gwascentral | rs587783015 |
openSNP | rs587783015 |
23andMe | rs587783015 |
SNPshot | rs587783015 |
SNPdbe | rs587783015 |
MSV3d | rs587783015 |
GWAS Ctlg | rs587783015 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783015(A;A) |
Alt | rs587783015(A;A) |
Reference | Rs587783015(G;G) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 8 |
Variation | info |
Gene | CRB1 |
CLNDBN | Leber congenital amaurosis 8 |
Reversed | 0 |
HGVS | NC_000001.10:g.197325970G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000144466.1, |