rs56126236
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs56126236(-;-) |
Make rs56126236(-;AG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 44829444 |
Gene | PTCH2 |
is a | snp |
is | mentioned by |
dbSNP | rs56126236 |
dbSNP (classic) | rs56126236 |
ClinGen | rs56126236 |
ebi | rs56126236 |
HLI | rs56126236 |
Exac | rs56126236 |
Gnomad | rs56126236 |
Varsome | rs56126236 |
LitVar | rs56126236 |
Map | rs56126236 |
PheGenI | rs56126236 |
Biobank | rs56126236 |
1000 genomes | rs56126236 |
hgdp | rs56126236 |
ensembl | rs56126236 |
geneview | rs56126236 |
scholar | rs56126236 |
rs56126236 | |
pharmgkb | rs56126236 |
gwascentral | rs56126236 |
openSNP | rs56126236 |
23andMe | rs56126236 |
SNPshot | rs56126236 |
SNPdbe | rs56126236 |
MSV3d | rs56126236 |
GWAS Ctlg | rs56126236 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56126236(-;-) |
Alt | rs56126236(-;-) |
Reference | Rs56126236(AG;AG) |
Significance | Pathogenic |
Disease | Medulloblastoma Gorlin syndrome |
Variation | info |
Gene | PTCH2 |
CLNDBN | Medulloblastoma Gorlin syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.45295116_45295117delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006520.5, RCV000490457.1, |