rs727502933
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727502933(A;T) |
Make rs727502933(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 71805804 |
Gene | CDH23 |
is a | snp |
is | mentioned by |
dbSNP | rs727502933 |
dbSNP (classic) | rs727502933 |
ClinGen | rs727502933 |
ebi | rs727502933 |
HLI | rs727502933 |
Exac | rs727502933 |
Gnomad | rs727502933 |
Varsome | rs727502933 |
LitVar | rs727502933 |
Map | rs727502933 |
PheGenI | rs727502933 |
Biobank | rs727502933 |
1000 genomes | rs727502933 |
hgdp | rs727502933 |
ensembl | rs727502933 |
geneview | rs727502933 |
scholar | rs727502933 |
rs727502933 | |
pharmgkb | rs727502933 |
gwascentral | rs727502933 |
openSNP | rs727502933 |
23andMe | rs727502933 |
SNPshot | rs727502933 |
SNPdbe | rs727502933 |
MSV3d | rs727502933 |
GWAS Ctlg | rs727502933 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502933(T;T) |
Alt | rs727502933(T;T) |
Reference | Rs727502933(A;A) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | CDH23 |
CLNDBN | Usher syndrome, type 1D |
Reversed | 0 |
HGVS | NC_000010.10:g.73565561A>T |
CLNSRC | |
CLNACC | RCV000150322.1, |