rs17710891
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs17710891(C;C) |
Make rs17710891(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 129209348 |
Gene | SMO |
is a | snp |
is | mentioned by |
dbSNP | rs17710891 |
dbSNP (classic) | rs17710891 |
ClinGen | rs17710891 |
ebi | rs17710891 |
HLI | rs17710891 |
Exac | rs17710891 |
Gnomad | rs17710891 |
Varsome | rs17710891 |
LitVar | rs17710891 |
Map | rs17710891 |
PheGenI | rs17710891 |
Biobank | rs17710891 |
1000 genomes | rs17710891 |
hgdp | rs17710891 |
ensembl | rs17710891 |
geneview | rs17710891 |
scholar | rs17710891 |
rs17710891 | |
pharmgkb | rs17710891 |
gwascentral | rs17710891 |
openSNP | rs17710891 |
23andMe | rs17710891 |
SNPshot | rs17710891 |
SNPdbe | rs17710891 |
MSV3d | rs17710891 |
GWAS Ctlg | rs17710891 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs17710891(A;A) rs17710891(C;C) |
Alt | rs17710891(A;A) rs17710891(C;C) |
Reference | Rs17710891(G;G) |
Significance | Pathogenic |
Disease | not specified Medulloblastoma Carcinoma |
Variation | info |
Gene | SMO |
CLNDBN | not specified Medulloblastoma Carcinoma, Basal Cell |
Reversed | 0 |
HGVS | NC_000007.13:g.128849189G>A; NC_000007.13:g.128849189G>C |
CLNSRC | |
CLNACC | RCV000122084.1, RCV000431122.1, RCV000441195.1, |