rs375907609
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs375907609(C;T) |
Make rs375907609(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 71811364 |
Gene | CDH23 |
is a | snp |
is | mentioned by |
dbSNP | rs375907609 |
dbSNP (classic) | rs375907609 |
ClinGen | rs375907609 |
ebi | rs375907609 |
HLI | rs375907609 |
Exac | rs375907609 |
Gnomad | rs375907609 |
Varsome | rs375907609 |
LitVar | rs375907609 |
Map | rs375907609 |
PheGenI | rs375907609 |
Biobank | rs375907609 |
1000 genomes | rs375907609 |
hgdp | rs375907609 |
ensembl | rs375907609 |
geneview | rs375907609 |
scholar | rs375907609 |
rs375907609 | |
pharmgkb | rs375907609 |
gwascentral | rs375907609 |
openSNP | rs375907609 |
23andMe | rs375907609 |
SNPshot | rs375907609 |
SNPdbe | rs375907609 |
MSV3d | rs375907609 |
GWAS Ctlg | rs375907609 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375907609(A;A) rs375907609(T;T) |
Alt | rs375907609(A;A) rs375907609(T;T) |
Reference | Rs375907609(C;C) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | CDH23 |
CLNDBN | Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000010.10:g.73571121C>T |
CLNSRC | |
CLNACC | RCV000214890.1, |