TTR
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | transthyretin |
| EntrezGene | 7276 |
| PheGenI | 7276 |
| VariationViewer | 7276 |
| ClinVar | TTR |
| GeneCards | TTR |
| dbSNP | 7276 |
| Diseases | TTR |
| SADR | 7276 |
| HugeNav | 7276 |
| wikipedia | TTR |
| TTR | |
| gopubmed | TTR |
| EVS | TTR |
| HEFalMp | TTR |
| MyGene2 | TTR |
| 23andMe | TTR |
| UniProt | P02766 |
| Ensembl | ENSG00000118271 |
| OMIM | 176300 |
| # SNPs | 64 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i3002758 | 29,172,937 | ||
| i3002759 | 29,178,618 | ||
| i5004213 | 29,175,120 | ||
| i6019130 | |||
| rs104894664 | 5.5 | 31,592,959 | |
| rs104894665 | 5.5 | 31,593,017 | |
| rs11541790 | 0 | 31,592,956 | |
| rs11541796 | 5.5 | 31,593,011 | |
| rs121918068 | 5.5 | 31,592,983 | |
| rs121918069 | 5.5 | 31,595,152 | |
| rs121918070 | 5.5 | 31,595,157 | |
| rs121918071 | 5.5 | 31,595,209 | |
| rs121918072 | 5.5 | 31,595,230 | |
| rs121918073 | 5.5 | 31,598,622 | |
| rs121918074 | 0 | 31,595,247 | |
| rs121918075 | 5.5 | 31,598,632 | |
| rs121918076 | 5.5 | 31,595,129 | |
| rs121918077 | 5.5 | 31,592,992 | |
| rs121918078 | 0 | 31,593,019 | |
| rs121918079 | 5.5 | 31,595,143 | |
| rs121918080 | 5.5 | 31,595,128 | |
| rs121918081 | 5.5 | 31,595,124 | |
| rs121918082 | 5.5 | 31,595,244 | |
| rs121918083 | 5.5 | 31,592,914 | |
| rs121918084 | 5.5 | 31,595,191 | |
| rs121918085 | 0 | 31,595,181 | |
| rs121918086 | 5.5 | 31,595,160 | |
| rs121918087 | 0 | 31,598,581 | |
| rs121918088 | 0 | 31,598,631 | |
| rs121918089 | 0 | 31,598,610 | |
| rs121918090 | 5.5 | 31,593,026 | |
| rs121918091 | 0 | 31,595,169 | |
| rs121918092 | 0 | 31,598,617 | |
| rs121918093 | 5.5 | 31,592,944 | |
| rs121918094 | 5.5 | 31,592,921 | |
| rs121918095 | 0 | 31,598,602 | |
| rs121918096 | 5.5 | 31,598,655 | |
| rs121918097 | 5.5 | 31,595,137 | |
| rs121918098 | 5.5 | 31,592,939 | |
| rs121918099 | 0 | 31,595,170 | |
| rs121918100 | 0 | 31,595,184 | |
| rs138065384 | 0 | 31,593,016 | |
| rs1800458 | 0 | 31,592,902 | |
| rs267607160 | 5.5 | 31,595,189 | |
| rs267607161 | 4 | 31,598,580 | |
| rs28933979 | 5.5 | 31,592,974 | |
| rs28933980 | 0 | 31,598,655 | |
| rs28933981 | 0 | 31,598,647 | |
| rs28933982 | 0 | 31,598,617 | |
| rs28933983 | 0 | 31,595,170 | |
| ... further results | |||
Located on chromosome 18, the TTR gene encodes the transthyretin protein, a transport protein in the serum and cerebrospinal fluid that carries the thyroid hormone thyroxine (T4) and retinol-binding protein bound to retinol. Mutations in the TTR gene may lead to several forms of amyloidosis.Wikipedia
Three such mutations account for roughly 50 - 80% of all TTR-related hereditary amyloidosis cases; these are:
- rs76992529: aka VI122I, most common in African Americans and people of West African descent
- rs28933979: aka V30M, most common in people of Portuguese, Northern Swedish, and Japanese descent
- rs121918070: aka T60A, most common in people of Irish and British descent.
