rs17815774
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs17815774(C;T) |
| Make rs17815774(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 31042159 |
| Gene | TRPM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17815774 |
| dbSNP (classic) | rs17815774 |
| ClinGen | rs17815774 |
| ebi | rs17815774 |
| HLI | rs17815774 |
| Exac | rs17815774 |
| Gnomad | rs17815774 |
| Varsome | rs17815774 |
| LitVar | rs17815774 |
| Map | rs17815774 |
| PheGenI | rs17815774 |
| Biobank | rs17815774 |
| 1000 genomes | rs17815774 |
| hgdp | rs17815774 |
| ensembl | rs17815774 |
| geneview | rs17815774 |
| scholar | rs17815774 |
| rs17815774 | |
| pharmgkb | rs17815774 |
| gwascentral | rs17815774 |
| openSNP | rs17815774 |
| 23andMe | rs17815774 |
| SNPshot | rs17815774 |
| SNPdbe | rs17815774 |
| MSV3d | rs17815774 |
| GWAS Ctlg | rs17815774 |
| GMAF | 0.01148 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 19721433 ]
|
| Trait | Treatment response to antipsychotics |
| Title | Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics |
| Risk Allele | |
| P-val | 0.000003 |
| Odds Ratio | 9.00 [NR] % of variance explained |
[PMID 19878917] Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
[PMID 19896113] TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
| ClinVar | |
|---|---|
| Risk | rs17815774(T;T) |
| Alt | rs17815774(T;T) |
| Reference | Rs17815774(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Congenital Stationary Night Blindness |
| Variation | info |
| Gene | TRPM1 |
| CLNDBN | Congenital Stationary Night Blindness, Recessive |
| Reversed | 0 |
| HGVS | NC_000015.9:g.31334362C>T |
| CLNSRC | |
| CLNACC | RCV000383263.1, |
