rs1136743
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1136743(C;T) |
| Make rs1136743(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 18269312 |
| Gene | SAA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1136743 |
| dbSNP (classic) | rs1136743 |
| ClinGen | rs1136743 |
| ebi | rs1136743 |
| HLI | rs1136743 |
| Exac | rs1136743 |
| Gnomad | rs1136743 |
| Varsome | rs1136743 |
| LitVar | rs1136743 |
| Map | rs1136743 |
| PheGenI | rs1136743 |
| Biobank | rs1136743 |
| 1000 genomes | rs1136743 |
| hgdp | rs1136743 |
| ensembl | rs1136743 |
| geneview | rs1136743 |
| scholar | rs1136743 |
| rs1136743 | |
| pharmgkb | rs1136743 |
| gwascentral | rs1136743 |
| openSNP | rs1136743 |
| 23andMe | rs1136743 |
| SNPshot | rs1136743 |
| SNPdbe | rs1136743 |
| MSV3d | rs1136743 |
| GWAS Ctlg | rs1136743 |
| Merged from | Rs17856195 |
| GMAF | 0.4761 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1136743(T;T) |
| Alt | rs1136743(T;T) |
| Reference | Rs1136743(C;C) |
| Significance | Pathogenic |
| Disease | Serum amyloid a variant |
| Variation | info |
| Gene | SAA1 |
| CLNDBN | Serum amyloid a variant |
| Reversed | 0 |
| HGVS | NC_000011.9:g.18290859C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019736.27, |
[PMID 18389087
] Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.
