TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
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: rs143473912
rs143473912 		1.000 0.080 14 24259744 missense variant C/A;T snv 4.1E-05; 4.9E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 21 1995 2016
dbSNP: rs121918721
rs121918721 		1.000 0.080 14 24258646 missense variant C/A;T snv 7.2E-05; 2.0E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 16 1995 2016
dbSNP: rs121918716
rs121918716 		1.000 0.080 14 24261779 missense variant G/A snv 7.0E-06
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 13 1995 2016
dbSNP: rs121918717
rs121918717 		1.000 0.080 14 24259720 missense variant C/T snv 4.1E-05 2.8E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 12 1995 2016
dbSNP: rs121918719
rs121918719 		0.925 0.080 14 24261775 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 12 1995 2016
dbSNP: rs121918731
rs121918731 		0.925 0.080 14 24259769 missense variant G/A;C;T snv 2.0E-05; 1.5E-04; 4.0E-06
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 12 1995 2016
dbSNP: rs397514525
rs397514525 		1.000 0.080 14 24259745 missense variant G/A snv 8.1E-06
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 12 1995 2016
dbSNP: rs121918725
rs121918725 		1.000 0.080 14 24259984 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 11 1995 2016
dbSNP: rs147916609
rs147916609 		1.000 0.080 14 24261802 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 11 1995 2016
dbSNP: rs201868387
rs201868387 		1.000 0.080 14 24260026 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 11 1995 2017
dbSNP: rs531650682
rs531650682 		0.851 0.080 14 24261776 missense variant G/A;C snv 5.6E-05 9.1E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 11 1995 2016
dbSNP: rs121918718
rs121918718 		0.925 0.080 14 24261778 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 10 1995 2016
dbSNP: rs121918723
rs121918723 		1.000 0.080 14 24258667 missense variant C/G;T snv 1.6E-05; 1.6E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 10 1995 2016
dbSNP: rs201853046
rs201853046 		1.000 0.080 14 24249477 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 10 1995 2016
dbSNP: rs121918720
rs121918720 		1.000 0.080 14 24259099 missense variant C/G;T snv 1.0E-04
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 9 1995 2016
dbSNP: rs121918732
rs121918732 		1.000 0.080 14 24260555 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 9 1995 2017
dbSNP: rs779287673
rs779287673 		1.000 0.080 14 24259160 missense variant G/A;C snv 4.0E-06; 4.4E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 8 1995 2016
dbSNP: rs121918722
rs121918722 		1.000 0.080 14 24259087 missense variant C/T snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1995 2016
dbSNP: rs121918726
rs121918726 		1.000 0.080 14 24258658 missense variant C/T snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1995 2016
dbSNP: rs121918727
rs121918727 		1.000 0.080 14 24259959 missense variant C/G;T snv 2.4E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1995 2016
dbSNP: rs121918728
rs121918728 		1.000 0.080 14 24261724 missense variant G/C snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1995 2016
dbSNP: rs121918730
rs121918730 		1.000 0.080 14 24259950 missense variant T/C;G snv 4.0E-06
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1995 2016
dbSNP: rs397514523
rs397514523 		1.000 0.080 14 24259990 missense variant A/T snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1995 2016
dbSNP: rs398122901
rs398122901 		1.000 0.080 14 24262048 missense variant T/A;C snv 4.0E-06
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1995 2016
dbSNP: rs878853259
rs878853259 		1.000 0.080 14 24260593 missense variant A/T snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1995 2016