COL3A1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | collagen, type III, alpha 1 |
| EntrezGene | 1281 |
| PheGenI | 1281 |
| VariationViewer | 1281 |
| ClinVar | COL3A1 |
| GeneCards | COL3A1 |
| dbSNP | 1281 |
| Diseases | COL3A1 |
| SADR | 1281 |
| HugeNav | 1281 |
| wikipedia | COL3A1 |
| COL3A1 | |
| gopubmed | COL3A1 |
| EVS | COL3A1 |
| HEFalMp | COL3A1 |
| MyGene2 | COL3A1 |
| 23andMe | COL3A1 |
| UniProt | P02461 |
| Ensembl | ENSG00000168542 |
| OMIM | 120180 |
| # SNPs | 385 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057518075 | 0 | 188,995,061 | |
| rs1057518372 | 0 | 188,991,532 | |
| rs1057521106 | 5 | 188,991,016 | |
| rs1057521930 | 0 | 188,993,416 | |
| rs1057523593 | 0 | 189,003,732 | |
| rs1060500187 | 0 | 189,010,187 | |
| rs1060500193 | 0 | 189,001,425 | |
| rs1060500194 | 0 | 188,994,235 | |
| rs1060500199 | 0 | 188,996,168 | |
| rs1060500200 | 0 | 188,984,761 | |
| rs1060500203 | 0 | 189,007,501 | |
| rs1060500204 | 0 | 188,994,540 | |
| rs1064796468 | 0 | 189,003,439 | |
| rs1064796733 | 0 | 188,998,673 | |
| rs1085307896 | 0 | 189,004,072 | |
| rs1085307964 | 0 | 189,005,414 | |
| rs111505097 | 6.5 | 189,008,943 | |
| rs111929073 | 6.5 | 188,999,471 | |
| rs112371422 | 6.5 | 189,007,569 | |
| rs112456072 | 6.5 | 189,008,961 | |
| rs113485686 | 6.5 | 189,001,554 | |
| rs113871730 | 6.5 | 188,991,697 | |
| rs121912913 | 6.5 | 189,004,302 | |
| rs121912914 | 6.5 | 189,006,400 | |
| rs121912915 | 6.5 | 189,006,965 | |
| rs121912916 | 6.5 | 189,006,207 | |
| rs121912917 | 6.5 | 189,008,952 | |
| rs121912918 | 6.5 | 189,008,135 | |
| rs121912919 | 6.5 | 188,991,678 | |
| rs121912920 | 6.5 | 189,002,316 | |
| rs121912921 | 6.5 | 188,998,693 | |
| rs121912922 | 6.5 | 189,004,312 | |
| rs121912923 | 6.5 | 188,996,479 | |
| rs121912924 | 6.5 | 189,007,546 | |
| rs121912925 | 6.5 | 188,999,560 | |
| rs121912926 | 6.5 | 188,988,099 | |
| rs121912927 | 6.5 | 188,990,308 | |
| rs121912928 | 6.5 | 188,996,171 | |
| rs121912929 | 0 | 189,006,400 | |
| rs1516446 | 0 | 189,010,695 | |
| rs1800255 | 2.5 | 188,999,354 | |
| rs193922176 | 6.5 | 188,996,426 | |
| rs267599120 | 0 | 188,988,590 | |
| rs3106796 | 0 | 188,985,047 | |
| rs387906557 | 0 | 188,985,737 | |
| rs397509369 | 6.5 | 189,002,343 | |
| rs397509370 | 6.5 | 188,994,595 | |
| rs397509371 | 6.5 | 189,003,067 | |
| rs397509372 | 6.5 | 188,996,501 | |
| rs397509373 | 6.5 | 189,004,365 | |
| ... further results | |||
The COL3A1 gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system. Collagen type III plays a role the strength and flexibility of tissues, as well as wound healing. Mutations of COL3A1 are implicated in Ehlers–Danlos syndromes type III (EDS-III) and type IV (EDS-IV), both being autosomal dominant connective tissue disorders.
