rs373780305
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs373780305(C;T) |
Make rs373780305(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 90642886 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs373780305 |
dbSNP (classic) | rs373780305 |
ClinGen | rs373780305 |
ebi | rs373780305 |
HLI | rs373780305 |
Exac | rs373780305 |
Gnomad | rs373780305 |
Varsome | rs373780305 |
LitVar | rs373780305 |
Map | rs373780305 |
PheGenI | rs373780305 |
Biobank | rs373780305 |
1000 genomes | rs373780305 |
hgdp | rs373780305 |
ensembl | rs373780305 |
geneview | rs373780305 |
scholar | rs373780305 |
rs373780305 | |
pharmgkb | rs373780305 |
gwascentral | rs373780305 |
openSNP | rs373780305 |
23andMe | rs373780305 |
SNPshot | rs373780305 |
SNPdbe | rs373780305 |
MSV3d | rs373780305 |
GWAS Ctlg | rs373780305 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373780305(T;T) |
Alt | rs373780305(T;T) |
Reference | Rs373780305(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | GPR98 ADGRV1 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.89938703C>T |
CLNSRC | ClinVar |
CLNACC | RCV000039562.2, |