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
dbSNP1281
SADR1281
HugeNav1281
wikipediaCOL3A1
googleCOL3A1
gopubmedCOL3A1
EVSCOL3A1
HEFalMpCOL3A1
MyGene2COL3A1
23andMeCOL3A1
UniProtP02461
EnsemblENSG00000168542
OMIM120180
# SNPs365
 Max MagnitudeChromosome positionSummary
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
rs3975093740189,002,999
rs3975093750188,988,140
rs3975093760188,997,394
rs3975093770188,987,090
rs5532034740188,999,570
rs5877794160189,005,395
rs5877794170189,003,457
rs5877794180188,999,888
rs5877794190188,992,923
rs5877794200188,988,100
rs5877794210188,997,746
rs5877794220188,991,727
rs5877794230188,991,728
rs5877794240189,004,144
rs5877794250188,991,722
rs5877794260188,991,724
... 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.