TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Ichthyosis Congenita I ×
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: rs1156392436
rs1156392436 		1.000 0.080 14 24261884 splice acceptor variant C/A snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555305783
rs1555305783 		1.000 0.080 14 24255049 frameshift variant AG/- delins
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555306102
rs1555306102 		1.000 0.080 14 24258533 splice donor variant A/G snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555306117
rs1555306117 		1.000 0.080 14 24258674 splice acceptor variant CT/- del
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555306172
rs1555306172 		1.000 0.080 14 24259191 frameshift variant -/AG delins
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs201432046
rs201432046 		1.000 0.080 14 24262194 stop gained G/T snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398122900
rs398122900 		1.000 0.080 14 24258379 frameshift variant TGGAA/- delins
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398122902
rs398122902 		1.000 0.080 14 24254970 splice donor variant ACAGGCC/- del
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398122903
rs398122903 		1.000 0.080 14 24258355 frameshift variant -/T delins 4.0E-06 1.4E-05
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs753798494
rs753798494 		0.882 0.080 14 24259778 missense variant T/A 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 0.700 0
dbSNP: rs776068111
rs776068111 		1.000 0.080 14 24262355 splice acceptor variant C/G;T snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs863223405
rs863223405 		0.925 0.080 14 24258324 missense variant A/G snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886039654
rs886039654 		1.000 0.080 14 24262221 stop gained C/T snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886041950
rs886041950 		1.000 0.080 14 24262169 stop gained C/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 0.700 0
dbSNP: rs904122716
rs904122716 		1.000 0.080 14 24256063 missense variant C/T snv 1.1E-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 0.700 0
dbSNP: rs991194429
rs991194429 		1.000 0.080 14 24258632 missense variant 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 0.700 0
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