rs796051863
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs796051863(-;AACA) |
Make rs796051863(AACA;AACA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 90706380 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs796051863 |
dbSNP (classic) | rs796051863 |
ClinGen | rs796051863 |
ebi | rs796051863 |
HLI | rs796051863 |
Exac | rs796051863 |
Gnomad | rs796051863 |
Varsome | rs796051863 |
LitVar | rs796051863 |
Map | rs796051863 |
PheGenI | rs796051863 |
Biobank | rs796051863 |
1000 genomes | rs796051863 |
hgdp | rs796051863 |
ensembl | rs796051863 |
geneview | rs796051863 |
scholar | rs796051863 |
rs796051863 | |
pharmgkb | rs796051863 |
gwascentral | rs796051863 |
openSNP | rs796051863 |
23andMe | rs796051863 |
SNPshot | rs796051863 |
SNPdbe | rs796051863 |
MSV3d | rs796051863 |
GWAS Ctlg | rs796051863 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051863(AACA;AACA) |
Alt | rs796051863(AACA;AACA) |
Reference | Rs796051863(-;-) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | GPR98 ADGRV1 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.90002194_90002197dupAACA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007201.5, |