rs869312178
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs869312178(C;G) |
Make rs869312178(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 90628554 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312178 |
dbSNP (classic) | rs869312178 |
ClinGen | rs869312178 |
ebi | rs869312178 |
HLI | rs869312178 |
Exac | rs869312178 |
Gnomad | rs869312178 |
Varsome | rs869312178 |
LitVar | rs869312178 |
Map | rs869312178 |
PheGenI | rs869312178 |
Biobank | rs869312178 |
1000 genomes | rs869312178 |
hgdp | rs869312178 |
ensembl | rs869312178 |
geneview | rs869312178 |
scholar | rs869312178 |
rs869312178 | |
pharmgkb | rs869312178 |
gwascentral | rs869312178 |
openSNP | rs869312178 |
23andMe | rs869312178 |
SNPshot | rs869312178 |
SNPdbe | rs869312178 |
MSV3d | rs869312178 |
GWAS Ctlg | rs869312178 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312178(G;G) |
Alt | rs869312178(G;G) |
Reference | Rs869312178(C;C) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | ADGRV1 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.89924371C>G |
CLNSRC | |
CLNACC | RCV000210295.1, |