TMED7-TICAM2, TMED7-TICAM2 readthrough, 100302736

N. diseases: 329; N. variants: 3
Disease: Aplasia Cutis Congenita ×
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: rs1250394819
rs1250394819 		0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007