rs146451547
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs146451547(A;A) |
Make rs146451547(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 17504664 |
Gene | USH1C |
is a | snp |
is | mentioned by |
dbSNP | rs146451547 |
dbSNP (classic) | rs146451547 |
ClinGen | rs146451547 |
ebi | rs146451547 |
HLI | rs146451547 |
Exac | rs146451547 |
Gnomad | rs146451547 |
Varsome | rs146451547 |
LitVar | rs146451547 |
Map | rs146451547 |
PheGenI | rs146451547 |
Biobank | rs146451547 |
1000 genomes | rs146451547 |
hgdp | rs146451547 |
ensembl | rs146451547 |
geneview | rs146451547 |
scholar | rs146451547 |
rs146451547 | |
pharmgkb | rs146451547 |
gwascentral | rs146451547 |
openSNP | rs146451547 |
23andMe | rs146451547 |
SNPshot | rs146451547 |
SNPdbe | rs146451547 |
MSV3d | rs146451547 |
GWAS Ctlg | rs146451547 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146451547(A;A) |
Alt | rs146451547(A;A) |
Reference | Rs146451547(G;G) |
Significance | Probable-Pathogenic |
Disease | Deafness Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | USH1C |
CLNDBN | Deafness, autosomal recessive 18 Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000011.9:g.17526211G>A |
CLNSRC | ClinVar |
CLNACC | RCV000041266.6, RCV000211746.1, |