rs183431253
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs183431253(A;A) |
Make rs183431253(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 71790413 |
Gene | CDH23, MIR7152 |
is a | snp |
is | mentioned by |
dbSNP | rs183431253 |
dbSNP (classic) | rs183431253 |
ClinGen | rs183431253 |
ebi | rs183431253 |
HLI | rs183431253 |
Exac | rs183431253 |
Gnomad | rs183431253 |
Varsome | rs183431253 |
LitVar | rs183431253 |
Map | rs183431253 |
PheGenI | rs183431253 |
Biobank | rs183431253 |
1000 genomes | rs183431253 |
hgdp | rs183431253 |
ensembl | rs183431253 |
geneview | rs183431253 |
scholar | rs183431253 |
rs183431253 | |
pharmgkb | rs183431253 |
gwascentral | rs183431253 |
openSNP | rs183431253 |
23andMe | rs183431253 |
SNPshot | rs183431253 |
SNPdbe | rs183431253 |
MSV3d | rs183431253 |
GWAS Ctlg | rs183431253 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs183431253(A;A) |
Alt | rs183431253(A;A) |
Reference | Rs183431253(G;G) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | MIR7152 CDH23 |
CLNDBN | Usher syndrome, type 1D |
Reversed | 0 |
HGVS | NC_000010.10:g.73550170G>A |
CLNSRC | ClinVar |
CLNACC | RCV000039235.2, |