rs189652973
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs189652973(C;T) |
| Make rs189652973(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 86217050 |
| Gene | REEP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs189652973 |
| dbSNP (classic) | rs189652973 |
| ClinGen | rs189652973 |
| ebi | rs189652973 |
| HLI | rs189652973 |
| Exac | rs189652973 |
| Gnomad | rs189652973 |
| Varsome | rs189652973 |
| LitVar | rs189652973 |
| Map | rs189652973 |
| PheGenI | rs189652973 |
| Biobank | rs189652973 |
| 1000 genomes | rs189652973 |
| hgdp | rs189652973 |
| ensembl | rs189652973 |
| geneview | rs189652973 |
| scholar | rs189652973 |
| rs189652973 | |
| pharmgkb | rs189652973 |
| gwascentral | rs189652973 |
| openSNP | rs189652973 |
| 23andMe | rs189652973 |
| SNPshot | rs189652973 |
| SNPdbe | rs189652973 |
| MSV3d | rs189652973 |
| GWAS Ctlg | rs189652973 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs189652973(T;T) |
| Alt | rs189652973(T;T) |
| Reference | Rs189652973(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified Spastic Paraplegia not provided |
| Variation | info |
| Gene | REEP1 |
| CLNDBN | not specified Spastic Paraplegia, Dominant not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.86444173C>T |
| CLNSRC | Illumina |
| CLNACC | RCV000198109.2, RCV000327009.1, RCV000415754.1, |
