rs138983888
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138983888(A;A) |
Make rs138983888(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 54132877 |
Gene | PCDH15 |
is a | snp |
is | mentioned by |
dbSNP | rs138983888 |
dbSNP (classic) | rs138983888 |
ClinGen | rs138983888 |
ebi | rs138983888 |
HLI | rs138983888 |
Exac | rs138983888 |
Gnomad | rs138983888 |
Varsome | rs138983888 |
LitVar | rs138983888 |
Map | rs138983888 |
PheGenI | rs138983888 |
Biobank | rs138983888 |
1000 genomes | rs138983888 |
hgdp | rs138983888 |
ensembl | rs138983888 |
geneview | rs138983888 |
scholar | rs138983888 |
rs138983888 | |
pharmgkb | rs138983888 |
gwascentral | rs138983888 |
openSNP | rs138983888 |
23andMe | rs138983888 |
SNPshot | rs138983888 |
SNPdbe | rs138983888 |
MSV3d | rs138983888 |
GWAS Ctlg | rs138983888 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138983888(A;A) |
Alt | rs138983888(A;A) |
Reference | Rs138983888(G;G) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | PCDH15 |
CLNDBN | Usher syndrome, type 1F |
Reversed | 0 |
HGVS | NC_000010.10:g.55892637G>A |
CLNSRC | |
CLNACC | RCV000412275.1, |