rs1064074
From SNPedia
					| Orientation | minus | 
| Stabilized | minus | 
| Geno | Mag | Summary | 
|---|---|---|
| (G;G) | 0 | common in clinvar | 
| Make rs1064074(C;C) | 
| Make rs1064074(C;G) | 
| Reference | GRCh38 38.1/141 | 
| Chromosome | 11 | 
| Position | 17498195 | 
| Gene | USH1C | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs1064074 | 
| dbSNP (classic) | rs1064074 | 
| ClinGen | rs1064074 | 
| ebi | rs1064074 | 
| HLI | rs1064074 | 
| Exac | rs1064074 | 
| Gnomad | rs1064074 | 
| Varsome | rs1064074 | 
| LitVar | rs1064074 | 
| Map | rs1064074 | 
| PheGenI | rs1064074 | 
| Biobank | rs1064074 | 
| 1000 genomes | rs1064074 | 
| hgdp | rs1064074 | 
| ensembl | rs1064074 | 
| geneview | rs1064074 | 
| scholar | rs1064074 | 
| rs1064074 | |
| pharmgkb | rs1064074 | 
| gwascentral | rs1064074 | 
| openSNP | rs1064074 | 
| 23andMe | rs1064074 | 
| SNPshot | rs1064074 | 
| SNPdbe | rs1064074 | 
| MSV3d | rs1064074 | 
| GWAS Ctlg | rs1064074 | 
| GMAF | 0.4353 | 
| Max Magnitude | 0 | 
| ? | (C;C) (C;G) (G;G) | 28 | 
|---|---|---|
| 
 
 
  | ||
| ClinVar | |
|---|---|
| Risk | rs1064074(C;C) rs1064074(T;T) | 
| Alt | rs1064074(C;C) rs1064074(T;T) | 
| Reference | Rs1064074(G;G) | 
| Significance | Probable-non-pathogenic | 
| Disease | not specified Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome | 
| Variation | info | 
| Gene | USH1C | 
| CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome | 
| Reversed | 1 | 
| HGVS | NC_000011.9:g.17519742C>G | 
| CLNSRC | UniProtKB (protein) | 
| CLNACC | RCV000041279.3, RCV000302668.1, RCV000390848.1, | 
