rs151045328
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs151045328(C;T) |
Make rs151045328(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 17531431 |
Gene | USH1C |
is a | snp |
is | mentioned by |
dbSNP | rs151045328 |
dbSNP (classic) | rs151045328 |
ClinGen | rs151045328 |
ebi | rs151045328 |
HLI | rs151045328 |
Exac | rs151045328 |
Gnomad | rs151045328 |
Varsome | rs151045328 |
LitVar | rs151045328 |
Map | rs151045328 |
PheGenI | rs151045328 |
Biobank | rs151045328 |
1000 genomes | rs151045328 |
hgdp | rs151045328 |
ensembl | rs151045328 |
geneview | rs151045328 |
scholar | rs151045328 |
rs151045328 | |
pharmgkb | rs151045328 |
gwascentral | rs151045328 |
openSNP | rs151045328 |
23andMe | rs151045328 |
SNPshot | rs151045328 |
SNPdbe | rs151045328 |
MSV3d | rs151045328 |
GWAS Ctlg | rs151045328 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151045328(T;T) |
Alt | rs151045328(T;T) |
Reference | Rs151045328(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome Usher syndrome |
Variation | info |
Gene | USH1C |
CLNDBN | Usher syndrome, type 1C Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.17552978C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005450.8, RCV000220605.1, |