rs104894651
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104894651(C;C) |
Make rs104894651(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 74922931 |
Gene | OTOP2, USH1G |
is a | snp |
is | mentioned by |
dbSNP | rs104894651 |
dbSNP (classic) | rs104894651 |
ClinGen | rs104894651 |
ebi | rs104894651 |
HLI | rs104894651 |
Exac | rs104894651 |
Gnomad | rs104894651 |
Varsome | rs104894651 |
LitVar | rs104894651 |
Map | rs104894651 |
PheGenI | rs104894651 |
Biobank | rs104894651 |
1000 genomes | rs104894651 |
hgdp | rs104894651 |
ensembl | rs104894651 |
geneview | rs104894651 |
scholar | rs104894651 |
rs104894651 | |
pharmgkb | rs104894651 |
gwascentral | rs104894651 |
openSNP | rs104894651 |
23andMe | rs104894651 |
SNPshot | rs104894651 |
SNPdbe | rs104894651 |
MSV3d | rs104894651 |
GWAS Ctlg | rs104894651 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894651(C;C) |
Alt | rs104894651(C;C) |
Reference | Rs104894651(T;T) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH1G OTOP2 |
CLNDBN | Usher syndrome, type 1G |
Reversed | 1 |
HGVS | NC_000017.10:g.72919026A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003048.3, |