EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
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: rs1554601483
rs1554601483 		1.000 0.120 8 118110209 missense variant T/C snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.800 1.000 8 1997 2001
dbSNP: rs119103287
rs119103287 		1.000 0.120 8 117837145 missense variant C/A;T snv 4.0E-06
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 12 1997 2016
dbSNP: rs119103290
rs119103290 		1.000 0.120 8 117837146 missense variant G/A snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 12 1997 2016
dbSNP: rs886039354
rs886039354 		1.000 0.120 8 117837107 splice donor variant C/A;T snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 8 1991 2009
dbSNP: rs1554578802
rs1554578802 		1.000 0.120 8 117819796 splice acceptor variant T/C snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 5 2000 2015
dbSNP: rs886039355
rs886039355 		1.000 0.120 8 117819744 frameshift variant G/-;GG delins
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 5 2000 2008
dbSNP: rs119103288
rs119103288 		1.000 0.120 8 117837148 missense variant C/T snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 4 1997 2013
dbSNP: rs1554578992
rs1554578992 		1.000 0.120 8 117822463 splice donor variant A/T snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 4 2000 2009
dbSNP: rs1554580162
rs1554580162 		1.000 0.120 8 117837203 splice acceptor variant T/C snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 4 2000 2009
dbSNP: rs1131691623
rs1131691623 		1.000 0.120 8 117804894 splice acceptor variant C/G;T snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 3 2000 2009
dbSNP: rs1554578798
rs1554578798 		1.000 0.120 8 117819780 frameshift variant -/G delins
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 3 2009 2014
dbSNP: rs1554580147
rs1554580147 		1.000 0.120 8 117837128 missense variant T/C snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 3 2007 2014
dbSNP: rs1554601568
rs1554601568 		1.000 0.120 8 118110829 frameshift variant T/- delins
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 3 2009 2014
dbSNP: rs1554656288
rs1554656288 		1.000 0.120 8 117799894 frameshift variant A/- delins
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 3 2001 2015
dbSNP: rs1563575654
rs1563575654 		1.000 0.120 8 117837107 splice donor variant CCTGC/- del
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 3 2000 2009
dbSNP: rs1563872934
rs1563872934 		1.000 0.120 8 117804773 frameshift variant A/- del
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 3 2001 2015
dbSNP: rs1363815113
rs1363815113 		1.000 0.120 8 117799852 stop gained G/A snv 4.0E-06
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 2 2001 2015
dbSNP: rs1554601504
rs1554601504 		1.000 0.120 8 118110384 frameshift variant ATGCTGGCTTTGG/- delins
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 2 2002 2009
dbSNP: rs72673947
rs72673947 		8 117872140 intron variant A/G snv 0.14
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs111709825
rs111709825 		8 117856127 intron variant T/C snv 3.7E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs13280053
rs13280053 		8 117889689 intron variant T/G snv 0.50
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs142459060
rs142459060 		1.000 0.080 8 117816659 intron variant T/C snv 2.3E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs1554601507
rs1554601507 		1.000 0.120 8 118110399 frameshift variant -/AGCA delins
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1554656266
rs1554656266 		1.000 0.120 8 117799849 stop gained G/A snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1554657437
rs1554657437 		1.000 0.120 8 117807290 stop gained C/A snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2008 2008