rs193922941
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 14 |
| Position | 23321473 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922941 |
| dbSNP (classic) | rs193922941 |
| ClinGen | rs193922941 |
| ebi | rs193922941 |
| HLI | rs193922941 |
| Exac | rs193922941 |
| Gnomad | rs193922941 |
| Varsome | rs193922941 |
| LitVar | rs193922941 |
| Map | rs193922941 |
| PheGenI | rs193922941 |
| Biobank | rs193922941 |
| 1000 genomes | rs193922941 |
| hgdp | rs193922941 |
| ensembl | rs193922941 |
| geneview | rs193922941 |
| scholar | rs193922941 |
| rs193922941 | |
| pharmgkb | rs193922941 |
| gwascentral | rs193922941 |
| openSNP | rs193922941 |
| 23andMe | rs193922941 |
| SNPshot | rs193922941 |
| SNPdbe | rs193922941 |
| MSV3d | rs193922941 |
| GWAS Ctlg | rs193922941 |
| Max Magnitude | 0 |
OMIM pathogenic variant, aka c.4_6GCG(6) (p.Ala2_Ala7=)
More commonly known as the GCG repeat of the PABPN1 gene; the normal form of the gene contains 6 copies of this (GCG) repeat. About 2% of the population carry an allele with 7 copies, which is considered a modifier and/or recessive variant. In most cases of oculopharyngeal muscular dystrophy, though, the (GCG)6 repeat has expanded to become (GCG)8-13, i.e. 8 to 13 repeats.
Note that no direct-to-consumer testing companies using DNA chips (such as 23andMe or Ancestry) report results for this SNP to our knowledge.
