Rs1057744
From SNPedia
| Orientation | minus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057744 |
| PheGenI | rs1057744 |
| nextbio | rs1057744 |
| hapmap | rs1057744 |
| 1000 genomes | rs1057744 |
| hgdp | rs1057744 |
| ensembl | rs1057744 |
| gopubmed | rs1057744 |
| geneview | rs1057744 |
| scholar | rs1057744 |
| rs1057744 | |
| pharmgkb | rs1057744 |
| gwascentral | rs1057744 |
| openSNP | rs1057744 |
| 23andMe | rs1057744 |
| 23andMe all | rs1057744 |
| SNP Nexus | |
| SNPshot | rs1057744 |
| SNPdbe | rs1057744 |
| MSV3d | rs1057744 |
| Gene | JAG2 |
| Chromosome | 14 |
| Orientation | minus |
| GMAF | 0.4588 |
| Position | 105617042 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude |
| Make rs1057744(A;A) |
| Make rs1057744(A;G) |
| Make rs1057744(G;G) |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
| Venter snp | |
|---|---|
| Source | plos |
| Gene | JAG2 |
| allele | T |
| frequency | 0.5 |
| sift | TOLERATED |
| HuRef | 1103649153753 |
| Disease Association | May be associated with Usher syndrome type IA (USHA1A) which describes a congenital sensory deafness associated with retinitis pigmentosa and feeble-mindedness. |
| GET Evidence | |
|---|---|
| JAG2-E463K | |
| aa_change | Glu463Lys |
| aa_change_short | E463K |
| impact | not reviewed |
| qualified_impact | Insufficiently evaluated not reviewed |
| overall_frequency | 0.614724 |
| summary | |
