rs201328768
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201328768(A;A) |
Make rs201328768(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 54020319 |
Gene | PCDH15 |
is a | snp |
is | mentioned by |
dbSNP | rs201328768 |
dbSNP (classic) | rs201328768 |
ClinGen | rs201328768 |
ebi | rs201328768 |
HLI | rs201328768 |
Exac | rs201328768 |
Gnomad | rs201328768 |
Varsome | rs201328768 |
LitVar | rs201328768 |
Map | rs201328768 |
PheGenI | rs201328768 |
Biobank | rs201328768 |
1000 genomes | rs201328768 |
hgdp | rs201328768 |
ensembl | rs201328768 |
geneview | rs201328768 |
scholar | rs201328768 |
rs201328768 | |
pharmgkb | rs201328768 |
gwascentral | rs201328768 |
openSNP | rs201328768 |
23andMe | rs201328768 |
SNPshot | rs201328768 |
SNPdbe | rs201328768 |
MSV3d | rs201328768 |
GWAS Ctlg | rs201328768 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201328768(A;A) rs201328768(T;T) |
Alt | rs201328768(A;A) rs201328768(T;T) |
Reference | Rs201328768(G;G) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | PCDH15 |
CLNDBN | Usher syndrome, type 1F |
Reversed | 0 |
HGVS | NC_000010.10:g.55780079G>T |
CLNSRC | |
CLNACC | RCV000410835.1, |