rs786205075
From SNPedia
| Merged into | rs767004810 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GGGAGCCACGAA;GGGAGCCACGAA) | 0 | common in clinvar |
| Make rs786205075(-;-) |
| Make rs786205075(-;AGCCACGAAGGG) |
| Make rs786205075(AGCCACGAAGGG;AGCCACGAAGGG) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 235401556 |
| Gene | TBCE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786205075 |
| dbSNP (classic) | rs786205075 |
| ClinGen | rs786205075 |
| ebi | rs786205075 |
| HLI | rs786205075 |
| Exac | rs786205075 |
| Gnomad | rs786205075 |
| Varsome | rs786205075 |
| LitVar | rs786205075 |
| Map | rs786205075 |
| PheGenI | rs786205075 |
| Biobank | rs786205075 |
| 1000 genomes | rs786205075 |
| hgdp | rs786205075 |
| ensembl | rs786205075 |
| geneview | rs786205075 |
| scholar | rs786205075 |
| rs786205075 | |
| pharmgkb | rs786205075 |
| gwascentral | rs786205075 |
| openSNP | rs786205075 |
| 23andMe | rs786205075 |
| SNPshot | rs786205075 |
| SNPdbe | rs786205075 |
| MSV3d | rs786205075 |
| GWAS Ctlg | rs786205075 |
| Status | Merged into rs767004810 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs786205075(GGGAGCCACGAA;GGGAGCCACGAA) |
| Significance | Pathogenic |
| Disease | Hypoparathyroidism retardation dysmorphism syndrome Kenny-Caffey syndrome type 1 not provided |
| Variation | info |
| Gene | TBCE |
| CLNDBN | Hypoparathyroidism retardation dysmorphism syndrome Kenny-Caffey syndrome type 1 not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.235564872_235564883delGCCACGAAGGGA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005608.3, RCV000191990.2, RCV000224858.1, |
