rs2305795
From SNPedia
| narcolepsy |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | 1.64x higher risk of narcolepsy compared to (G;G) genotype |
| (A;G) | 2 | 1.28x higher risk of narcolepsy compared to (G;G) genotype |
| (G;G) | 0 | normal risk of narcolepsy |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 10115376 |
| Gene | EIF3G, PPAN-P2RY11, P2RY11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2305795 |
| dbSNP (classic) | rs2305795 |
| ClinGen | rs2305795 |
| ebi | rs2305795 |
| HLI | rs2305795 |
| Exac | rs2305795 |
| Gnomad | rs2305795 |
| Varsome | rs2305795 |
| LitVar | rs2305795 |
| Map | rs2305795 |
| PheGenI | rs2305795 |
| Biobank | rs2305795 |
| 1000 genomes | rs2305795 |
| hgdp | rs2305795 |
| ensembl | rs2305795 |
| geneview | rs2305795 |
| scholar | rs2305795 |
| rs2305795 | |
| pharmgkb | rs2305795 |
| gwascentral | rs2305795 |
| openSNP | rs2305795 |
| 23andMe | rs2305795 |
| SNPshot | rs2305795 |
| SNPdbe | rs2305795 |
| MSV3d | rs2305795 |
| GWAS Ctlg | rs2305795 |
| GMAF | 0.3623 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
Common variants in P2RY11 are associated with narcolepsy. [PMID 21170044
] Found that rs2305795 G allele appears to lower the risk of narcolepsy.
This SNP is also in the intronal area of the EIF3G gene.
[PMID 22177342] TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy.
[PMID 25669430] EIF3G is associated with narcolepsy across ethnicities
| ClinVar | |
|---|---|
| Risk | Rs2305795(A;A) |
| Alt | Rs2305795(A;A) |
| Reference | Rs2305795(G;G) |
| Significance | Other |
| Disease | Cataplexy and narcolepsy |
| Variation | info |
| Gene | P2RY11 EIF3G PPAN-P2RY11 |
| CLNDBN | Cataplexy and narcolepsy |
| Reversed | 0 |
| HGVS | NC_000019.9:g.10226052G>A |
| CLNSRC | |
| CLNACC | RCV000161132.1, |
