rs754391973
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs754391973(A;A) |
Make rs754391973(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 53961790 |
Gene | PCDH15 |
is a | snp |
is | mentioned by |
dbSNP | rs754391973 |
dbSNP (classic) | rs754391973 |
ClinGen | rs754391973 |
ebi | rs754391973 |
HLI | rs754391973 |
Exac | rs754391973 |
Gnomad | rs754391973 |
Varsome | rs754391973 |
LitVar | rs754391973 |
Map | rs754391973 |
PheGenI | rs754391973 |
Biobank | rs754391973 |
1000 genomes | rs754391973 |
hgdp | rs754391973 |
ensembl | rs754391973 |
geneview | rs754391973 |
scholar | rs754391973 |
rs754391973 | |
pharmgkb | rs754391973 |
gwascentral | rs754391973 |
openSNP | rs754391973 |
23andMe | rs754391973 |
SNPshot | rs754391973 |
SNPdbe | rs754391973 |
MSV3d | rs754391973 |
GWAS Ctlg | rs754391973 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754391973(A;A) rs754391973(C;C) |
Alt | rs754391973(A;A) rs754391973(C;C) |
Reference | Rs754391973(G;G) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | PCDH15 |
CLNDBN | Usher syndrome, type 1D |
Reversed | 0 |
HGVS | NC_000010.10:g.55721550G>A |
CLNSRC | |
CLNACC | RCV000210315.1, |