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: rs3803800
rs3803800
0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.830 1.000 3 2011 2017
dbSNP: rs11552708
rs11552708
0.882 0.240 17 7559238 missense variant G/A;C snv 0.13; 4.2E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.030 0.667 3 2007 2017
dbSNP: rs3803800
rs3803800
0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 1.000 2 2007 2012
dbSNP: rs11552708
rs11552708
0.882 0.240 17 7559238 missense variant G/A;C snv 0.13; 4.2E-06
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.010 1.000 1 2012 2012
dbSNP: rs11552708
rs11552708
0.882 0.240 17 7559238 missense variant G/A;C snv 0.13; 4.2E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.010 1.000 1 2017 2017
dbSNP: rs1421612208
rs1421612208
1.000 0.040 17 7556804 missense variant G/A snv
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome
0.010 1.000 1 2004 2004
dbSNP: rs3803800
rs3803800
0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 1.000 1 2014 2014
dbSNP: rs3803800
rs3803800
0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 1.000 1 2014 2014
dbSNP: rs3803800
rs3803800
0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 1.000 1 2015 2015
dbSNP: rs3803800
rs3803800
0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE
0.010 1.000 1 2015 2015
dbSNP: rs939358667
rs939358667
1.000 0.040 17 7560733 missense variant A/G snv 7.0E-06
CUI: C1399819
Disease: Humoral immunodeficiency
Humoral immunodeficiency
0.010 1.000 1 2005 2005