rs376689763
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs376689763(C;T) |
Make rs376689763(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 90753705 |
Gene | ADGRV1 |
is a | snp |
is | mentioned by |
dbSNP | rs376689763 |
dbSNP (classic) | rs376689763 |
ClinGen | rs376689763 |
ebi | rs376689763 |
HLI | rs376689763 |
Exac | rs376689763 |
Gnomad | rs376689763 |
Varsome | rs376689763 |
LitVar | rs376689763 |
Map | rs376689763 |
PheGenI | rs376689763 |
Biobank | rs376689763 |
1000 genomes | rs376689763 |
hgdp | rs376689763 |
ensembl | rs376689763 |
geneview | rs376689763 |
scholar | rs376689763 |
rs376689763 | |
pharmgkb | rs376689763 |
gwascentral | rs376689763 |
openSNP | rs376689763 |
23andMe | rs376689763 |
SNPshot | rs376689763 |
SNPdbe | rs376689763 |
MSV3d | rs376689763 |
GWAS Ctlg | rs376689763 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376689763(G;G) rs376689763(T;T) |
Alt | rs376689763(G;G) rs376689763(T;T) |
Reference | Rs376689763(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome not specified |
Variation | info |
Gene | GPR98 ADGRV1 |
CLNDBN | Usher syndrome, type 2C not specified |
Reversed | 0 |
HGVS | NC_000005.9:g.90049522C>G; NC_000005.9:g.90049522C>T |
CLNSRC | ClinVar |
CLNACC | RCV000039510.2, RCV000343323.1, |