rs35669711
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common on affy axiom data |
| (C;T) | 0 | Likely to be benign according to ClinVar |
| Make rs35669711(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 21852751 |
| Gene | HSPG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35669711 |
| dbSNP (classic) | rs35669711 |
| ClinGen | rs35669711 |
| ebi | rs35669711 |
| HLI | rs35669711 |
| Exac | rs35669711 |
| Gnomad | rs35669711 |
| Varsome | rs35669711 |
| LitVar | rs35669711 |
| Map | rs35669711 |
| PheGenI | rs35669711 |
| Biobank | rs35669711 |
| 1000 genomes | rs35669711 |
| hgdp | rs35669711 |
| ensembl | rs35669711 |
| geneview | rs35669711 |
| scholar | rs35669711 |
| rs35669711 | |
| pharmgkb | rs35669711 |
| gwascentral | rs35669711 |
| openSNP | rs35669711 |
| 23andMe | rs35669711 |
| SNPshot | rs35669711 |
| SNPdbe | rs35669711 |
| MSV3d | rs35669711 |
| GWAS Ctlg | rs35669711 |
| GMAF | 0.0225 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35669711(T;T) |
| Alt | rs35669711(T;T) |
| Reference | Rs35669711(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Schwartz Jampel syndrome type 1 Dyssegmental Dysplasia |
| Variation | info |
| Gene | HSPG2 |
| CLNDBN | Schwartz Jampel syndrome type 1 Dyssegmental Dysplasia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.22179244C>T |
| CLNSRC | |
| CLNACC | RCV000306325.1, RCV000398821.1, |
