Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs746351550
rs746351550
TGM2
0.925 0.160 20 38146789 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.020 1.000 2 1999 2017
dbSNP: rs746351550
rs746351550
TGM2
0.925 0.160 20 38146789 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		0.020 1.000 2 1999 2017
dbSNP: rs1285894726
rs1285894726
TGM2
0.882 0.120 20 38141329 missense variant T/C snv
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		0.010 1.000 1 2002 2002
dbSNP: rs1285894726
rs1285894726
TGM2
0.882 0.120 20 38141329 missense variant T/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.010 1.000 1 2002 2002
dbSNP: rs1285894726
rs1285894726
TGM2
0.882 0.120 20 38141329 missense variant T/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.010 1.000 1 2002 2002
dbSNP: rs1309065326
rs1309065326
TGM2
1.000 0.040 20 38141383 missense variant T/C snv 5.4E-06 7.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2007 2007
dbSNP: rs1309065326
rs1309065326
TGM2
1.000 0.040 20 38141383 missense variant T/C snv 5.4E-06 7.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2007 2007
dbSNP: rs1324026337
rs1324026337
TGM2
0.925 0.120 20 38148038 missense variant T/C snv 4.0E-06
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.010 1.000 1 2002 2002
dbSNP: rs1324026337
rs1324026337
TGM2
0.925 0.120 20 38148038 missense variant T/C snv 4.0E-06
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.010 1.000 1 2002 2002
dbSNP: rs1336912774
rs1336912774
TGM2
1.000 0.120 20 38139648 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.010 1.000 1 2013 2013
dbSNP: rs149480979
rs149480979
TGM2
1.000 0.080 20 38132407 missense variant G/A snv
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.010 1.000 1 2002 2002
dbSNP: rs372703574
rs372703574
TGM2
0.851 0.160 20 38146858 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 2007 2007
dbSNP: rs372703574
rs372703574
TGM2
0.851 0.160 20 38146858 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs372703574
rs372703574
TGM2
0.851 0.160 20 38146858 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2007 2007
dbSNP: rs372703574
rs372703574
TGM2
0.851 0.160 20 38146858 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.010 1.000 1 2007 2007
dbSNP: rs373772486
rs373772486
TGM2
1.000 0.120 20 38147984 missense variant C/G;T snv 8.0E-06; 4.0E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.010 1.000 1 1991 1991
dbSNP: rs376510500
rs376510500
TGM2
1.000 0.120 20 38156054 missense variant G/A snv 2.4E-05 4.9E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.010 1.000 1 2005 2005
dbSNP: rs745494744
rs745494744
TGM2
1.000 0.040 20 38148004 missense variant C/T snv 8.3E-06 7.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.010 1.000 1 2001 2001
dbSNP: rs753630955
rs753630955
TGM2
0.882 0.040 20 38161510 stop gained G/A;T snv 2.0E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2018 2018
dbSNP: rs753630955
rs753630955
TGM2
0.882 0.040 20 38161510 stop gained G/A;T snv 2.0E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 1.000 1 2018 2018
dbSNP: rs753630955
rs753630955
TGM2
0.882 0.040 20 38161510 stop gained G/A;T snv 2.0E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2018 2018
dbSNP: rs754486163
rs754486163
TGM2
1.000 0.120 20 38138346 missense variant T/C snv 1.6E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.010 1.000 1 2004 2004
dbSNP: rs771803303
rs771803303
TGM2
0.882 0.160 20 38148005 missense variant G/A;C;T snv 1.6E-05; 4.1E-06
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2002 2002
dbSNP: rs771803303
rs771803303
TGM2
0.882 0.160 20 38148005 missense variant G/A;C;T snv 1.6E-05; 4.1E-06
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.010 1.000 1 2001 2001
dbSNP: rs771803303
rs771803303
TGM2
0.882 0.160 20 38148005 missense variant G/A;C;T snv 1.6E-05; 4.1E-06
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.010 1.000 1 2002 2002