rs1060500739
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (GGAAA;GGAAA) | 0 | common in clinvar | 
| Make rs1060500739(-;-) | 
| Make rs1060500739(-;AAGGA) | 
| Make rs1060500739(AAGGA;AAGGA) | 
| Reference | GRCh38.p7 38.3/150 | 
| Chromosome | 18 | 
| Position | 51048699 | 
| Gene | SMAD4 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs1060500739 | 
| dbSNP (classic) | rs1060500739 | 
| ClinGen | rs1060500739 | 
| ebi | rs1060500739 | 
| HLI | rs1060500739 | 
| Exac | rs1060500739 | 
| Gnomad | rs1060500739 | 
| Varsome | rs1060500739 | 
| LitVar | rs1060500739 | 
| Map | rs1060500739 | 
| PheGenI | rs1060500739 | 
| Biobank | rs1060500739 | 
| 1000 genomes | rs1060500739 | 
| hgdp | rs1060500739 | 
| ensembl | rs1060500739 | 
| geneview | rs1060500739 | 
| scholar | rs1060500739 | 
| rs1060500739 | |
| pharmgkb | rs1060500739 | 
| gwascentral | rs1060500739 | 
| openSNP | rs1060500739 | 
| 23andMe | rs1060500739 | 
| SNPshot | rs1060500739 | 
| SNPdbe | rs1060500739 | 
| MSV3d | rs1060500739 | 
| GWAS Ctlg | rs1060500739 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs1060500739(-;-) | 
| Alt | rs1060500739(-;-) | 
| Reference | Rs1060500739(GGAAA;GGAAA) | 
| Significance | Pathogenic | 
| Disease | Juvenile polyposis syndrome | 
| Variation | info | 
| Gene | SMAD4 | 
| CLNDBN | Juvenile polyposis syndrome | 
| Reversed | 0 | 
| HGVS | NC_000018.9:g.48575069_48575073delAAGGA | 
| CLNSRC | |
| CLNACC | RCV000467655.1, | 


