Source: BEFREE

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: rs4988453
rs4988453
ACAA1 ; MYD88
0.851 0.200 3 38137763 upstream gene variant C/A;T snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.010 1.000 1 2013 2013
dbSNP: rs4988453
rs4988453
ACAA1 ; MYD88
0.851 0.200 3 38137763 upstream gene variant C/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs4988453
rs4988453
ACAA1 ; MYD88
0.851 0.200 3 38137763 upstream gene variant C/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs1162844242
rs1162844242
ACAA1 ; MYD88
0.925 0.120 3 38138711 missense variant G/T snv 7.0E-06
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy 		0.010 1.000 1 2014 2014
dbSNP: rs1162844242
rs1162844242
ACAA1 ; MYD88
0.925 0.120 3 38138711 missense variant G/T snv 7.0E-06
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
Peripheral T-Cell Lymphoma 		0.010 1.000 1 2014 2014
dbSNP: rs4988453
rs4988453
ACAA1 ; MYD88
0.851 0.200 3 38137763 upstream gene variant C/A;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2019 2019