rs1057516992
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057516992(-;A) |
Make rs1057516992(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 54369260 |
Gene | PCDH15 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516992 |
dbSNP (classic) | rs1057516992 |
ClinGen | rs1057516992 |
ebi | rs1057516992 |
HLI | rs1057516992 |
Exac | rs1057516992 |
Gnomad | rs1057516992 |
Varsome | rs1057516992 |
LitVar | rs1057516992 |
Map | rs1057516992 |
PheGenI | rs1057516992 |
Biobank | rs1057516992 |
1000 genomes | rs1057516992 |
hgdp | rs1057516992 |
ensembl | rs1057516992 |
geneview | rs1057516992 |
scholar | rs1057516992 |
rs1057516992 | |
pharmgkb | rs1057516992 |
gwascentral | rs1057516992 |
openSNP | rs1057516992 |
23andMe | rs1057516992 |
SNPshot | rs1057516992 |
SNPdbe | rs1057516992 |
MSV3d | rs1057516992 |
GWAS Ctlg | rs1057516992 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516992(A;A) |
Alt | rs1057516992(A;A) |
Reference | Rs1057516992(-;-) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | PCDH15 |
CLNDBN | Usher syndrome, type 1F |
Reversed | 1 |
HGVS | NC_000010.10:g.56129021dupT |
CLNSRC | |
CLNACC | RCV000411746.1, |