rs80338908, TEK

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
CUI: C1838437
Disease: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
3 0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06 0.810 1.000 5 1996 2012
Congenital abnormality of vein
CUI: C2937220
Disease: Congenital abnormality of vein
7 0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06 0.050 1.000 5 1996 2018
Venous malformation
CUI: C0265950
Disease: Venous malformation
3 0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06 0.050 1.000 5 1996 2018
Adenoviral infections
CUI: C0851887
Disease: Adenoviral infections
1 0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
Hemangiomatosis
CUI: C1384590
Disease: Hemangiomatosis
1 0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
Vascular anomaly
CUI: C0158570
Disease: Vascular anomaly
5 0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019