rs1060499795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060499795(A;A) |
Make rs1060499795(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 90728933 |
Gene | ADGRV1, LOC105379077 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499795 |
dbSNP (classic) | rs1060499795 |
ClinGen | rs1060499795 |
ebi | rs1060499795 |
HLI | rs1060499795 |
Exac | rs1060499795 |
Gnomad | rs1060499795 |
Varsome | rs1060499795 |
LitVar | rs1060499795 |
Map | rs1060499795 |
PheGenI | rs1060499795 |
Biobank | rs1060499795 |
1000 genomes | rs1060499795 |
hgdp | rs1060499795 |
ensembl | rs1060499795 |
geneview | rs1060499795 |
scholar | rs1060499795 |
rs1060499795 | |
pharmgkb | rs1060499795 |
gwascentral | rs1060499795 |
openSNP | rs1060499795 |
23andMe | rs1060499795 |
SNPshot | rs1060499795 |
SNPdbe | rs1060499795 |
MSV3d | rs1060499795 |
GWAS Ctlg | rs1060499795 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499795(A;A) |
Alt | rs1060499795(A;A) |
Reference | Rs1060499795(G;G) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | ADGRV1 GPR98 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.90024750G>A |
CLNSRC | |
CLNACC | RCV000454263.1, |