rs724159987
From SNPedia
| Merged into | rs199470469 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (ATTCAAGTAACTTGAA;ATTCAAGTAACTTGAA) | 0 | common in clinvar |
| Make rs724159987(-;-) |
| Make rs724159987(-;TTCAAGTAACTTGAAA) |
| Make rs724159987(TTCAAGTAACTTGAAA;TTCAAGTAACTTGAAA) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 75028505 |
| Gene | KAT6B, LOC105378361 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs724159987 |
| dbSNP (classic) | rs724159987 |
| ClinGen | rs724159987 |
| ebi | rs724159987 |
| HLI | rs724159987 |
| Exac | rs724159987 |
| Gnomad | rs724159987 |
| Varsome | rs724159987 |
| LitVar | rs724159987 |
| Map | rs724159987 |
| PheGenI | rs724159987 |
| Biobank | rs724159987 |
| 1000 genomes | rs724159987 |
| hgdp | rs724159987 |
| ensembl | rs724159987 |
| geneview | rs724159987 |
| scholar | rs724159987 |
| rs724159987 | |
| pharmgkb | rs724159987 |
| gwascentral | rs724159987 |
| openSNP | rs724159987 |
| 23andMe | rs724159987 |
| SNPshot | rs724159987 |
| SNPdbe | rs724159987 |
| MSV3d | rs724159987 |
| GWAS Ctlg | rs724159987 |
| Status | Merged into rs199470469 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs724159987(ATTCAAGTAACTTGAA;ATTCAAGTAACTTGAA) |
| Significance | Pathogenic |
| Disease | Genitopatellar syndrome not provided |
| Variation | info |
| Gene | KAT6B |
| CLNDBN | Genitopatellar syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.76788263_76788278del16 |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023491.4, RCV000128644.1, |
