rs7014851
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | None | |
| (C;T) | 0 | Very likely to be a benign allele |
| (T;T) | 0 | common |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 22119197 |
| Gene | HR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7014851 |
| dbSNP (classic) | rs7014851 |
| ClinGen | rs7014851 |
| ebi | rs7014851 |
| HLI | rs7014851 |
| Exac | rs7014851 |
| Gnomad | rs7014851 |
| Varsome | rs7014851 |
| LitVar | rs7014851 |
| Map | rs7014851 |
| PheGenI | rs7014851 |
| Biobank | rs7014851 |
| 1000 genomes | rs7014851 |
| hgdp | rs7014851 |
| ensembl | rs7014851 |
| geneview | rs7014851 |
| scholar | rs7014851 |
| rs7014851 | |
| pharmgkb | rs7014851 |
| gwascentral | rs7014851 |
| openSNP | rs7014851 |
| 23andMe | rs7014851 |
| SNPshot | rs7014851 |
| SNPdbe | rs7014851 |
| MSV3d | rs7014851 |
| GWAS Ctlg | rs7014851 |
| GMAF | 0.0753 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs7014851(C;C) |
| Alt | Rs7014851(C;C) |
| Reference | Rs7014851(T;T) |
| Significance | Non-pathogenic |
| Disease | Alopecia universalis congenita Alopecia universalis |
| Variation | info |
| Gene | HR |
| CLNDBN | Alopecia universalis congenita Alopecia universalis |
| Reversed | 0 |
| HGVS | NC_000008.10:g.21976710T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007755.4, RCV000368548.1, |
