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: rs1057517836
rs1057517836 		1.000 0.080 14 24261795 stop gained -/TACTCATACT delins
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
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: rs121918719
rs121918719 		0.925 0.080 14 24261775 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		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: 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: 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: rs863223405
rs863223405 		0.925 0.080 14 24258324 missense variant A/G snv
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		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: rs1322979131
rs1322979131 		1.000 0.080 14 24260014 frameshift variant C/- del
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1555305725
rs1555305725 		1.000 0.080 14 24254768 stop gained G/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 1.000 1 2000 2000
dbSNP: rs1555305836
rs1555305836 		1.000 0.080 14 24255250 stop gained G/C snv
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs199678720
rs199678720 		1.000 0.080 14 24260628 stop gained C/G;T snv 8.0E-06; 8.0E-06
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2009 2009