COL9A1, collagen type IX alpha 1 chain, 1297

N. diseases: 116; N. variants: 24
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: rs1321061
rs1321061 		6 70288860 intron variant A/G snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1406844
rs1406844 		6 70286979 intron variant C/A;T snv 7.2E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1406845
rs1406845 		6 70287089 intron variant C/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs17649310
rs17649310 		6 70285583 intron variant C/A;T snv 6.1E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3793075
rs3793075 		6 70293066 intron variant A/G snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3806104
rs3806104 		6 70290093 intron variant G/A snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3806105
rs3806105 		6 70297015 intron variant G/A snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs883707
rs883707 		6 70267100 intron variant G/T snv 4.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs883707
rs883707 		6 70267100 intron variant G/T snv 4.1E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9294862
rs9294862 		6 70291111 intron variant C/A snv 0.15
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9446219
rs9446219 		6 70299607 intron variant C/T snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9455020
rs9455020 		6 70285266 intron variant T/C snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9455022
rs9455022 		6 70289120 intron variant A/T snv 0.15
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9455026
rs9455026 		6 70291666 intron variant C/T snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9455027
rs9455027 		6 70293741 intron variant A/T snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9455031
rs9455031 		6 70296672 intron variant T/C snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs121912931
rs121912931 		0.882 0.280 6 70281033 stop gained G/A snv
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV 		0.700 0
dbSNP: rs189754995
rs189754995 		1.000 6 70255375 stop gained G/A;T snv
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV 		0.700 0
dbSNP: rs1135056
rs1135056 		1.000 0.080 6 70252130 missense variant T/C snv 0.37 0.38
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs121912931
rs121912931 		0.882 0.280 6 70281033 stop gained G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121912931
rs121912931 		0.882 0.280 6 70281033 stop gained G/A snv
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs35470562
rs35470562 		1.000 0.080 6 70240718 missense variant C/T snv 7.0E-06
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs550675
rs550675 		6 70269490 intron variant C/T snv 0.49
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs550675
rs550675 		6 70269490 intron variant C/T snv 0.49
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs592121
rs592121 		1.000 0.080 6 70274733 missense variant A/G;T snv 0.40
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 < 0.001 1 2016 2016