rs1555344723
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 6 | Marsili syndrome (predicted); pain insensitivity |
| Make rs1555344723(T;T) |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1555344723 |
| dbSNP (classic) | rs1555344723 |
| ClinGen | rs1555344723 |
| ebi | rs1555344723 |
| HLI | rs1555344723 |
| Exac | rs1555344723 |
| Gnomad | rs1555344723 |
| Varsome | rs1555344723 |
| LitVar | rs1555344723 |
| Map | rs1555344723 |
| PheGenI | rs1555344723 |
| Biobank | rs1555344723 |
| 1000 genomes | rs1555344723 |
| hgdp | rs1555344723 |
| ensembl | rs1555344723 |
| geneview | rs1555344723 |
| scholar | rs1555344723 |
| rs1555344723 | |
| pharmgkb | rs1555344723 |
| gwascentral | rs1555344723 |
| openSNP | rs1555344723 |
| 23andMe | rs1555344723 |
| SNPshot | rs1555344723 |
| SNPdbe | rs1555344723 |
| MSV3d | rs1555344723 |
| GWAS Ctlg | rs1555344723 |
| Max Magnitude | 6 |
aka c.5738G>A (p.Arg1913Lys)
This mutation in the ZFHX2 gene was reported in 2018 in an Italian family (the Marsili's) exhibiting inherited pain insensitivity. The mutation is inherited as an autosomal dominant, and the associated syndrome is currently called Marsili syndrome.[PMID 29253101
]
See also OMIM 617828.0001
