rs104894412
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6 | knuckle pads, leukonychia, and deafness |
| (C;C) | 0 | common in clinvar |
| Make rs104894412(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189420 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894412 |
| dbSNP (classic) | rs104894412 |
| ClinGen | rs104894412 |
| ebi | rs104894412 |
| HLI | rs104894412 |
| Exac | rs104894412 |
| Gnomad | rs104894412 |
| Varsome | rs104894412 |
| LitVar | rs104894412 |
| Map | rs104894412 |
| PheGenI | rs104894412 |
| Biobank | rs104894412 |
| 1000 genomes | rs104894412 |
| hgdp | rs104894412 |
| ensembl | rs104894412 |
| geneview | rs104894412 |
| scholar | rs104894412 |
| rs104894412 | |
| pharmgkb | rs104894412 |
| gwascentral | rs104894412 |
| openSNP | rs104894412 |
| 23andMe | rs104894412 |
| SNPshot | rs104894412 |
| SNPdbe | rs104894412 |
| MSV3d | rs104894412 |
| GWAS Ctlg | rs104894412 |
| Max Magnitude | 6 |
See OMIM for a description of Bart-Pumphrey syndrome, and OMIM 121011.0030 for a discussion of this particular mutation, associated with knuckle pads, leukonychia, and deafness.
| ClinVar | |
|---|---|
| Risk | rs104894412(A;A) |
| Alt | rs104894412(A;A) |
| Reference | Rs104894412(C;C) |
| Significance | Pathogenic |
| Disease | Knuckle pads |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Knuckle pads, deafness AND leukonychia syndrome |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763559G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018558.28, |
