rs145415848
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs145415848(C;T) |
Make rs145415848(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 78111171 |
Gene | CIB2 |
is a | snp |
is | mentioned by |
dbSNP | rs145415848 |
dbSNP (classic) | rs145415848 |
ClinGen | rs145415848 |
ebi | rs145415848 |
HLI | rs145415848 |
Exac | rs145415848 |
Gnomad | rs145415848 |
Varsome | rs145415848 |
LitVar | rs145415848 |
Map | rs145415848 |
PheGenI | rs145415848 |
Biobank | rs145415848 |
1000 genomes | rs145415848 |
hgdp | rs145415848 |
ensembl | rs145415848 |
geneview | rs145415848 |
scholar | rs145415848 |
rs145415848 | |
pharmgkb | rs145415848 |
gwascentral | rs145415848 |
openSNP | rs145415848 |
23andMe | rs145415848 |
SNPshot | rs145415848 |
SNPdbe | rs145415848 |
MSV3d | rs145415848 |
GWAS Ctlg | rs145415848 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145415848(G;G) rs145415848(T;T) |
Alt | rs145415848(G;G) rs145415848(T;T) |
Reference | Rs145415848(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome Usher syndrome not specified |
Variation | info |
Gene | CIB2 |
CLNDBN | Usher syndrome, type 1J Usher syndrome, type 1 not specified |
Reversed | 0 |
HGVS | NC_000015.9:g.78403513C>G; NC_000015.9:g.78403513C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032890.3, RCV000223233.1, RCV000243546.1, |