Have questions? Visit https://www.reddit.com/r/SNPedia

COL3A1

From SNPedia

is agene
is mentioned by
Full namecollagen, type III, alpha 1
EntrezGene1281
PheGenI1281
VariationViewer1281
ClinVarCOL3A1
GeneCardsCOL3A1
dbSNP1281
DiseasesCOL3A1
SADR1281
HugeNav1281
wikipediaCOL3A1
googleCOL3A1
gopubmedCOL3A1
EVSCOL3A1
HEFalMpCOL3A1
MyGene2COL3A1
23andMeCOL3A1
UniProtP02461
EnsemblENSG00000168542
OMIM120180
# SNPs385
 Max MagnitudeChromosome positionSummary
rs1057518075
rs1057518372
rs1057521106
rs1057521930
rs1057523593
rs1060500187
rs1060500193
rs1060500194
rs1060500199
rs1060500200
rs1060500203
rs1060500204
rs1064796468
rs1064796733
rs1085307896
rs1085307964
rs1115050970189,008,943
rs1119290730188,999,471
rs1123714220189,007,569
rs1124560720189,008,961
rs1134856860189,001,554
rs1138717300188,991,697
rs1219129130189,004,302
rs1219129140189,006,400
rs1219129150189,006,965
rs1219129160189,006,207
rs1219129170189,008,952
rs1219129180189,008,135
rs1219129190188,991,678
rs1219129200189,002,316
rs1219129210188,998,693
rs1219129220189,004,312
rs1219129230188,996,479
rs1219129240189,007,546
rs1219129250188,999,560
rs1219129260188,988,099
rs1219129270188,990,308
rs1219129280188,996,171
rs1219129290189,006,400
rs15164460189,010,695
rs18002552.5188,999,354
rs1939221760188,996,426
rs2675991200188,988,590
rs3106796188,985,047
rs3879065570188,985,737
rs3975093690189,002,343
rs3975093700188,994,595
rs3975093710189,003,067
rs3975093720188,996,501
rs3975093730189,004,365
... 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.