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, |