COL27A1, collagen type XXVII alpha 1 chain, 85301

N. diseases: 17; N. variants: 20
Disease: Disorder of Achilles tendon ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1249744
rs1249744 		1.000 9 114281072 intron variant A/G snv 0.22
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 1.000 1 2013 2013
dbSNP: rs2241671
rs2241671 		1.000 9 114168819 missense variant G/A;T snv 0.41; 4.0E-06
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 1.000 1 2018 2018
dbSNP: rs2567705
rs2567705 		1.000 9 114169386 missense variant A/G;T snv 0.33
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 1.000 1 2018 2018
dbSNP: rs4143245
rs4143245 		1.000 9 114270742 synonymous variant T/C snv 0.42 0.42
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 1.000 1 2013 2013
dbSNP: rs753085
rs753085 		1.000 9 114283167 intron variant G/A snv 0.20
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 1.000 1 2013 2013
dbSNP: rs946053
rs946053 		1.000 9 114287611 intron variant T/G snv 0.63
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 1.000 1 2013 2013