SNP ID | Function | Amino acid | Chr: Position | Alleles (A/B) | MAF | MAF in different populations | HWE (P Value) | Haploreg 4.1 | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Cases | Controls | CHB | CHS | AFR | EUR | |||||||
rs2297810 | missense | M (Met) > I (Ile) | 1: 46815187 | A/G | 0.242 | 0.230 | 0.335 | 0.333 | 0.461 | 0.131 | 0.103 | SiPhy cons; Enhancer histone marks; Motifs changed; GRASP eQTL hits; Selected eQTL hits |
rs4646491 | missense | R (Arg) > S (Ser) | 1: 46815212 | T/C | 0.232 | 0.230 | 0.330 | 0.305 | 0.039 | 0.130 | 0.103 | SiPhy cons; Enhancer histone marks; Motifs changed; GRASP eQTL hits; Selected eQTL hits |
rs2297809 | missense | R (Arg) > C (Cys) | 1: 46817100 | T/C | 0.231 | 0.229 | 0.330 | 0.300 | 0.130 | 0.126 | 0.100 | SiPhy cons; Motifs changed; Selected eQTL hits |