rs115352681
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs115352681(C;T) |
Make rs115352681(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 197421010 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs115352681 |
dbSNP (classic) | rs115352681 |
ClinGen | rs115352681 |
ebi | rs115352681 |
HLI | rs115352681 |
Exac | rs115352681 |
Gnomad | rs115352681 |
Varsome | rs115352681 |
LitVar | rs115352681 |
Map | rs115352681 |
PheGenI | rs115352681 |
Biobank | rs115352681 |
1000 genomes | rs115352681 |
hgdp | rs115352681 |
ensembl | rs115352681 |
geneview | rs115352681 |
scholar | rs115352681 |
rs115352681 | |
pharmgkb | rs115352681 |
gwascentral | rs115352681 |
openSNP | rs115352681 |
23andMe | rs115352681 |
SNPshot | rs115352681 |
SNPdbe | rs115352681 |
MSV3d | rs115352681 |
GWAS Ctlg | rs115352681 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs115352681(A;A) rs115352681(T;T) |
Alt | rs115352681(A;A) rs115352681(T;T) |
Reference | Rs115352681(C;C) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 8 |
Variation | info |
Gene | CRB1 |
CLNDBN | Leber congenital amaurosis 8 |
Reversed | 0 |
HGVS | NC_000001.10:g.197390140C>A |
CLNSRC | |
CLNACC | RCV000322587.1, |