TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Congenital ichthyosis ×
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: rs318240748
rs318240748 		0.882 0.080 14 24260459 missense variant A/C snv
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs531650682
rs531650682 		0.851 0.080 14 24261776 missense variant G/A;C snv 5.6E-05 9.1E-05
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		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: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017