TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Bathing suit 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: rs753798494
rs753798494 		0.882 0.080 14 24259778 missense variant T/A snv 4.0E-06
CUI: C4511230
Disease: Bathing suit ichthyosis
Bathing suit ichthyosis 		0.010 1.000 1 2014 2014