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: rs1281390228
rs1281390228
DECR1
1.000 0.120 8 90036907 missense variant C/G snv
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		0.020 1.000 2 2004 2009
dbSNP: rs1314386070
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0015702
Disease: Favism
Favism 		0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs1314386070
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs1314386070
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs137876000
rs137876000
DECR1
8 90042763 missense variant G/A snv 2.2E-04 1.1E-04
CUI: C0018965
Disease: Hematuria
Hematuria 		0.010 1.000 1 2008 2008
dbSNP: rs201405525
rs201405525
DECR1
0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs201405525
rs201405525
DECR1
0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2016 2016
dbSNP: rs201405525
rs201405525
DECR1
0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06
CUI: C1860042
Disease: Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome with Disordered Steroidogenesis 		0.010 1.000 1 2016 2016
dbSNP: rs533450458
rs533450458
DECR1
0.925 0.120 8 90042781 missense variant C/T snv 5.5E-04 7.7E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 1.000 1 2007 2007
dbSNP: rs533450458
rs533450458
DECR1
0.925 0.120 8 90042781 missense variant C/T snv 5.5E-04 7.7E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2007 2007
dbSNP: rs752317734
rs752317734
DECR1
0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		0.010 1.000 1 2018 2018
dbSNP: rs752317734
rs752317734
DECR1
0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06
CUI: C1955906
Disease: Lymphoma, Extranodal NK-T-Cell
Lymphoma, Extranodal NK-T-Cell 		0.010 1.000 1 2018 2018
dbSNP: rs752317734
rs752317734
DECR1
0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs752317734
rs752317734
DECR1
0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.010 1.000 1 2018 2018
dbSNP: rs752317734
rs752317734
DECR1
0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		0.010 1.000 1 2018 2018
dbSNP: rs758837678
rs758837678
DECR1 ; NBN
0.925 0.120 8 90001503 missense variant C/T snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2007 2007
dbSNP: rs758837678
rs758837678
DECR1 ; NBN
0.925 0.120 8 90001503 missense variant C/T snv
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		0.010 1.000 1 2007 2007