rs113363047
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTT;GTT) | 0 | common in clinvar |
Make rs113363047(-;-) |
Make rs113363047(-;GTT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 53822123 |
Gene | PCDH15 |
is a | snp |
is | mentioned by |
dbSNP | rs113363047 |
dbSNP (classic) | rs113363047 |
ClinGen | rs113363047 |
ebi | rs113363047 |
HLI | rs113363047 |
Exac | rs113363047 |
Gnomad | rs113363047 |
Varsome | rs113363047 |
LitVar | rs113363047 |
Map | rs113363047 |
PheGenI | rs113363047 |
Biobank | rs113363047 |
1000 genomes | rs113363047 |
hgdp | rs113363047 |
ensembl | rs113363047 |
geneview | rs113363047 |
scholar | rs113363047 |
rs113363047 | |
pharmgkb | rs113363047 |
gwascentral | rs113363047 |
openSNP | rs113363047 |
23andMe | rs113363047 |
SNPshot | rs113363047 |
SNPdbe | rs113363047 |
MSV3d | rs113363047 |
GWAS Ctlg | rs113363047 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113363047(-;-) rs113363047(TTG;TTG) |
Alt | rs113363047(-;-) rs113363047(TTG;TTG) |
Reference | Rs113363047(GTT;GTT) |
Significance | Pathogenic |
Disease | not specified Usher syndrome |
Variation | info |
Gene | PCDH15 |
CLNDBN | not specified Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000010.10:g.55581883_55581885delGTT |
CLNSRC | HGMD |
CLNACC | RCV000039764.5, RCV000215699.1, |