Rs1804197
From SNPedia
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1804197 |
| PheGenI | rs1804197 |
| nextbio | rs1804197 |
| hapmap | rs1804197 |
| 1000 genomes | rs1804197 |
| hgdp | rs1804197 |
| ensembl | rs1804197 |
| gopubmed | rs1804197 |
| geneview | rs1804197 |
| scholar | rs1804197 |
| rs1804197 | |
| pharmgkb | rs1804197 |
| gwascentral | rs1804197 |
| openSNP | rs1804197 |
| 23andMe | rs1804197 |
| 23andMe all | rs1804197 |
| SNP Nexus | |
| SNPshot | rs1804197 |
| SNPdbe | rs1804197 |
| MSV3d | rs1804197 |
| Gene | APC |
| Chromosome | 5 |
| Orientation | plus |
| Position | 112179909 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs1804197(A;A) |
| Make rs1804197(A;C) |
Although many SNPs have been found in this gene in association with (successful) hunts for mutations predisposing individuals to colon cancers, this previously unidentified SNP is located in the 3' untranslated portion of the gene. Also in conjunction with a common four-SNP haplotype (TGAG for rs2229992, rs42427, rs459552, and rs465899), this SNP is reported to be associated with Asperger's sydrome in the Swedish population studied. [PMID 17221838]
| ClinVar | |
|---|---|
| Risk | rs1804197(A;A) |
| Normal | rs1804197(C;C) |
| Significance | 255 |
| Disease | |
| ClinVar | info |
| Gene | APC |
| CLNDBN | OMIM |
| Reversed | 0 |
| CLNHGVS | NC_000005.9:g.112179909C>A |
| CLNSRC | |