TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Congenital Nonbullous Ichthyosiform Erythroderma ×
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: 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: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 5 2006 2016
dbSNP: rs587779765
rs587779765 		1.000 0.080 14 24255388 missense variant T/G snv
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		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: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121918718
rs121918718 		0.925 0.080 14 24261778 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2004 2009
dbSNP: rs1044429462
rs1044429462 		1.000 0.080 14 24255378 missense variant T/C snv 2.8E-05 3.5E-05
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1465243895
rs1465243895 		0.925 0.080 14 24261772 missense variant C/T snv 8.0E-06
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1998 1998
dbSNP: rs318240748
rs318240748 		0.882 0.080 14 24260459 missense variant A/C snv
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs35312232
rs35312232 		0.925 0.080 14 24255457 missense variant C/A;T snv 4.0E-06; 1.1E-02
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs531650682
rs531650682 		0.851 0.080 14 24261776 missense variant G/A;C snv 5.6E-05 9.1E-05
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs757658720
rs757658720 		0.882 0.080 14 24249451 missense variant G/A;T snv 4.0E-06
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs778635368
rs778635368 		0.925 0.080 14 24261773 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs886041250
rs886041250 		0.925 0.080 14 24261824 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1997 1997