rs730880369
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730880369(-;ACGAG) |
Make rs730880369(ACGAG;ACGAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 90683704 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs730880369 |
dbSNP (classic) | rs730880369 |
ClinGen | rs730880369 |
ebi | rs730880369 |
HLI | rs730880369 |
Exac | rs730880369 |
Gnomad | rs730880369 |
Varsome | rs730880369 |
LitVar | rs730880369 |
Map | rs730880369 |
PheGenI | rs730880369 |
Biobank | rs730880369 |
1000 genomes | rs730880369 |
hgdp | rs730880369 |
ensembl | rs730880369 |
geneview | rs730880369 |
scholar | rs730880369 |
rs730880369 | |
pharmgkb | rs730880369 |
gwascentral | rs730880369 |
openSNP | rs730880369 |
23andMe | rs730880369 |
SNPshot | rs730880369 |
SNPdbe | rs730880369 |
MSV3d | rs730880369 |
GWAS Ctlg | rs730880369 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880369(AGACG;AGACG) |
Alt | rs730880369(AGACG;AGACG) |
Reference | Rs730880369(-;-) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | ADGRV1 GPR98 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.89979517_89979521dupACGAG |
CLNSRC | |
CLNACC | RCV000156744.1, |