rs1057519383
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519383(G;T) |
Make rs1057519383(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 90790948 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519383 |
dbSNP (classic) | rs1057519383 |
ClinGen | rs1057519383 |
ebi | rs1057519383 |
HLI | rs1057519383 |
Exac | rs1057519383 |
Gnomad | rs1057519383 |
Varsome | rs1057519383 |
LitVar | rs1057519383 |
Map | rs1057519383 |
PheGenI | rs1057519383 |
Biobank | rs1057519383 |
1000 genomes | rs1057519383 |
hgdp | rs1057519383 |
ensembl | rs1057519383 |
geneview | rs1057519383 |
scholar | rs1057519383 |
rs1057519383 | |
pharmgkb | rs1057519383 |
gwascentral | rs1057519383 |
openSNP | rs1057519383 |
23andMe | rs1057519383 |
SNPshot | rs1057519383 |
SNPdbe | rs1057519383 |
MSV3d | rs1057519383 |
GWAS Ctlg | rs1057519383 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519383(A;A) rs1057519383(T;T) |
Alt | rs1057519383(A;A) rs1057519383(T;T) |
Reference | Rs1057519383(G;G) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | ADGRV1 GPR98 |
CLNDBN | Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.90086765G>T |
CLNSRC | |
CLNACC | RCV000213866.1, |