Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.020 1.000 2 2008 2011
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 2013 2013
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.010 1.000 1 2013 2013
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2013 2013
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C0242966
Disease: Systemic Inflammatory Response Syndrome
Systemic Inflammatory Response Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2008 2008