rs527236133
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs527236133(C;T) |
Make rs527236133(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 90692659 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs527236133 |
dbSNP (classic) | rs527236133 |
ClinGen | rs527236133 |
ebi | rs527236133 |
HLI | rs527236133 |
Exac | rs527236133 |
Gnomad | rs527236133 |
Varsome | rs527236133 |
LitVar | rs527236133 |
Map | rs527236133 |
PheGenI | rs527236133 |
Biobank | rs527236133 |
1000 genomes | rs527236133 |
hgdp | rs527236133 |
ensembl | rs527236133 |
geneview | rs527236133 |
scholar | rs527236133 |
rs527236133 | |
pharmgkb | rs527236133 |
gwascentral | rs527236133 |
openSNP | rs527236133 |
23andMe | rs527236133 |
SNPshot | rs527236133 |
SNPdbe | rs527236133 |
MSV3d | rs527236133 |
GWAS Ctlg | rs527236133 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236133(T;T) |
Alt | rs527236133(T;T) |
Reference | Rs527236133(C;C) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | GPR98 ADGRV1 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.89988476C>T |
CLNSRC | ClinVar |
CLNACC | RCV000132687.1, |