rs587776546
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776546(-;C) |
Make rs587776546(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 74920441 |
Gene | USH1G |
is a | snp |
is | mentioned by |
dbSNP | rs587776546 |
dbSNP (classic) | rs587776546 |
ClinGen | rs587776546 |
ebi | rs587776546 |
HLI | rs587776546 |
Exac | rs587776546 |
Gnomad | rs587776546 |
Varsome | rs587776546 |
LitVar | rs587776546 |
Map | rs587776546 |
PheGenI | rs587776546 |
Biobank | rs587776546 |
1000 genomes | rs587776546 |
hgdp | rs587776546 |
ensembl | rs587776546 |
geneview | rs587776546 |
scholar | rs587776546 |
rs587776546 | |
pharmgkb | rs587776546 |
gwascentral | rs587776546 |
openSNP | rs587776546 |
23andMe | rs587776546 |
SNPshot | rs587776546 |
SNPdbe | rs587776546 |
MSV3d | rs587776546 |
GWAS Ctlg | rs587776546 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776546(G;G) |
Alt | rs587776546(G;G) |
Reference | Rs587776546(-;-) |
Significance | Pathogenic |
Disease | Usher syndrome Usher syndrome |
Variation | info |
Gene | USH1G |
CLNDBN | Usher syndrome, type 1G Usher syndrome, type 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.72916537dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003051.4, RCV000222936.1, |