rs121909763
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121909763(A;G) |
Make rs121909763(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 90985501 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909763 |
dbSNP (classic) | rs121909763 |
ClinGen | rs121909763 |
ebi | rs121909763 |
HLI | rs121909763 |
Exac | rs121909763 |
Gnomad | rs121909763 |
Varsome | rs121909763 |
LitVar | rs121909763 |
Map | rs121909763 |
PheGenI | rs121909763 |
Biobank | rs121909763 |
1000 genomes | rs121909763 |
hgdp | rs121909763 |
ensembl | rs121909763 |
geneview | rs121909763 |
scholar | rs121909763 |
rs121909763 | |
pharmgkb | rs121909763 |
gwascentral | rs121909763 |
openSNP | rs121909763 |
23andMe | rs121909763 |
SNPshot | rs121909763 |
SNPdbe | rs121909763 |
MSV3d | rs121909763 |
GWAS Ctlg | rs121909763 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909763(G;G) |
Alt | rs121909763(G;G) |
Reference | Rs121909763(A;A) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | ADGRV1 GPR98 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.90281318A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007204.4, |