rs587776578
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587776578(A;A) |
Make rs587776578(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 102599545 |
Gene | SUFU |
is a | snp |
is | mentioned by |
dbSNP | rs587776578 |
dbSNP (classic) | rs587776578 |
ClinGen | rs587776578 |
ebi | rs587776578 |
HLI | rs587776578 |
Exac | rs587776578 |
Gnomad | rs587776578 |
Varsome | rs587776578 |
LitVar | rs587776578 |
Map | rs587776578 |
PheGenI | rs587776578 |
Biobank | rs587776578 |
1000 genomes | rs587776578 |
hgdp | rs587776578 |
ensembl | rs587776578 |
geneview | rs587776578 |
scholar | rs587776578 |
rs587776578 | |
pharmgkb | rs587776578 |
gwascentral | rs587776578 |
openSNP | rs587776578 |
23andMe | rs587776578 |
SNPshot | rs587776578 |
SNPdbe | rs587776578 |
MSV3d | rs587776578 |
GWAS Ctlg | rs587776578 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776578(A;A) rs587776578(C;C) |
Alt | rs587776578(A;A) rs587776578(C;C) |
Reference | Rs587776578(G;G) |
Significance | Pathogenic |
Disease | Medulloblastoma Gorlin syndrome |
Variation | info |
Gene | SUFU |
CLNDBN | Medulloblastoma, desmoplastic Gorlin syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.104359302G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003752.4, RCV000003753.2, |