rs864309653
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AGTAATTATTCCATCATA;AGTAATTATTCCATCATA) | 0 | common in clinvar |
| Make rs864309653(AGTAATTATTCCATCATA;T) |
| Make rs864309653(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 88518757 |
| Gene | KITLG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs864309653 |
| dbSNP (classic) | rs864309653 |
| ClinGen | rs864309653 |
| ebi | rs864309653 |
| HLI | rs864309653 |
| Exac | rs864309653 |
| Gnomad | rs864309653 |
| Varsome | rs864309653 |
| LitVar | rs864309653 |
| Map | rs864309653 |
| PheGenI | rs864309653 |
| Biobank | rs864309653 |
| 1000 genomes | rs864309653 |
| hgdp | rs864309653 |
| ensembl | rs864309653 |
| geneview | rs864309653 |
| scholar | rs864309653 |
| rs864309653 | |
| pharmgkb | rs864309653 |
| gwascentral | rs864309653 |
| openSNP | rs864309653 |
| 23andMe | rs864309653 |
| SNPshot | rs864309653 |
| SNPdbe | rs864309653 |
| MSV3d | rs864309653 |
| GWAS Ctlg | rs864309653 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs864309653(T;T) |
| Alt | rs864309653(T;T) |
| Reference | Rs864309653(AGTAATTATTCCATCATA;AGTAATTATTCCATCATA) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | KITLG |
| CLNDBN | Deafness, autosomal dominant 69 |
| Reversed | 1 |
| HGVS | NC_000012.11:g.88912534_88912551del18insA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000203239.3, |
