rs201536811
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201536811(C;T) |
Make rs201536811(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 71709169 |
Gene | CDH23 |
is a | snp |
is | mentioned by |
dbSNP | rs201536811 |
dbSNP (classic) | rs201536811 |
ClinGen | rs201536811 |
ebi | rs201536811 |
HLI | rs201536811 |
Exac | rs201536811 |
Gnomad | rs201536811 |
Varsome | rs201536811 |
LitVar | rs201536811 |
Map | rs201536811 |
PheGenI | rs201536811 |
Biobank | rs201536811 |
1000 genomes | rs201536811 |
hgdp | rs201536811 |
ensembl | rs201536811 |
geneview | rs201536811 |
scholar | rs201536811 |
rs201536811 | |
pharmgkb | rs201536811 |
gwascentral | rs201536811 |
openSNP | rs201536811 |
23andMe | rs201536811 |
SNPshot | rs201536811 |
SNPdbe | rs201536811 |
MSV3d | rs201536811 |
GWAS Ctlg | rs201536811 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201536811(A;A) rs201536811(T;T) |
Alt | rs201536811(A;A) rs201536811(T;T) |
Reference | Rs201536811(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Usher syndrome |
Variation | info |
Gene | CDH23 |
CLNDBN | not specified Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000010.10:g.73468926C>T |
CLNSRC | |
CLNACC | RCV000217321.2, RCV000221834.1, |