rs1085307120
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Chromosome | 4 |
| Position | 55974970 |
| Gene | CEP135 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1085307120 |
| dbSNP (classic) | rs1085307120 |
| ClinGen | rs1085307120 |
| ebi | rs1085307120 |
| HLI | rs1085307120 |
| Exac | rs1085307120 |
| Gnomad | rs1085307120 |
| Varsome | rs1085307120 |
| LitVar | rs1085307120 |
| Map | rs1085307120 |
| PheGenI | rs1085307120 |
| Biobank | rs1085307120 |
| 1000 genomes | rs1085307120 |
| hgdp | rs1085307120 |
| ensembl | rs1085307120 |
| geneview | rs1085307120 |
| scholar | rs1085307120 |
| rs1085307120 | |
| pharmgkb | rs1085307120 |
| gwascentral | rs1085307120 |
| openSNP | rs1085307120 |
| 23andMe | rs1085307120 |
| SNPshot | rs1085307120 |
| SNPdbe | rs1085307120 |
| MSV3d | rs1085307120 |
| GWAS Ctlg | rs1085307120 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1085307120(A;A) |
| Alt | rs1085307120(A;A) |
| Reference | Rs1085307120(G;G) |
| Significance | Pathogenic |
| Disease | Primary autosomal recessive microcephaly 8 |
| Variation | info |
| Gene | CEP135 |
| CLNDBN | Primary autosomal recessive microcephaly 8 |
| Reversed | 0 |
| HGVS | NC_000004.11:g.56841136G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000477712.1, |
