rs142129409
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3.3 | Uncombable hair syndrome |
| (A;T) | 3 | Carrier of an uncombable hair syndrome variant |
| (T;T) | 0 | common/normal |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 17262194 |
| Gene | PADI3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142129409 |
| dbSNP (classic) | rs142129409 |
| ClinGen | rs142129409 |
| ebi | rs142129409 |
| HLI | rs142129409 |
| Exac | rs142129409 |
| Gnomad | rs142129409 |
| Varsome | rs142129409 |
| LitVar | rs142129409 |
| Map | rs142129409 |
| PheGenI | rs142129409 |
| Biobank | rs142129409 |
| 1000 genomes | rs142129409 |
| hgdp | rs142129409 |
| ensembl | rs142129409 |
| geneview | rs142129409 |
| scholar | rs142129409 |
| rs142129409 | |
| pharmgkb | rs142129409 |
| gwascentral | rs142129409 |
| openSNP | rs142129409 |
| 23andMe | rs142129409 |
| SNPshot | rs142129409 |
| SNPdbe | rs142129409 |
| MSV3d | rs142129409 |
| GWAS Ctlg | rs142129409 |
| Max Magnitude | 3.3 |
10.1016/j.ajhg.2016.10.004 Uncombable hair syndrome variant in PADI3 gene, c.335T>A or p.Leu112His
| ClinVar | |
|---|---|
| Risk | Rs142129409(A;A) |
| Alt | Rs142129409(A;A) |
| Reference | Rs142129409(T;T) |
| Significance | Pathogenic |
| Disease | Uncombable hair syndrome |
| Variation | info |
| Gene | PADI3 |
| CLNDBN | Uncombable hair syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.17588689T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000415522.1, |
