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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
rs10575180750188,995,061
rs10575183720188,991,532
rs10575211065188,991,016
rs10575219300188,993,416
rs10575235930189,003,732
rs10605001870189,010,187
rs10605001930189,001,425
rs10605001940188,994,235
rs10605001990188,996,168
rs10605002000188,984,761
rs10605002030189,007,501
rs10605002040188,994,540
rs10647964680189,003,439
rs10647967330188,998,673
rs10853078960189,004,072
rs10853079640189,005,414
rs1115050976.5189,008,943
rs1119290736.5188,999,471
rs1123714226.5189,007,569
rs1124560726.5189,008,961
rs1134856866.5189,001,554
rs1138717306.5188,991,697
rs1219129136.5189,004,302
rs1219129146.5189,006,400
rs1219129156.5189,006,965
rs1219129166.5189,006,207
rs1219129176.5189,008,952
rs1219129186.5189,008,135
rs1219129196.5188,991,678
rs1219129206.5189,002,316
rs1219129216.5188,998,693
rs1219129226.5189,004,312
rs1219129236.5188,996,479
rs1219129246.5189,007,546
rs1219129256.5188,999,560
rs1219129266.5188,988,099
rs1219129276.5188,990,308
rs1219129286.5188,996,171
rs1219129290189,006,400
rs15164460189,010,695
rs18002552.5188,999,354
rs1939221766.5188,996,426
rs2675991200188,988,590
rs31067960188,985,047
rs3879065570188,985,737
rs3975093696.5189,002,343
rs3975093706.5188,994,595
rs3975093716.5189,003,067
rs3975093726.5188,996,501
rs3975093736.5189,004,365
... 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.