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: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2012 2012
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2008 2008
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0019158
Disease: Hepatitis
Hepatitis 		0.010 1.000 1 2007 2007
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2008 2008
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2013 2013
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2008 2008
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2013 2013
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2013 2013
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 1.000 1 2008 2008
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.010 1.000 1 2008 2008
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.010 1.000 1 2014 2014
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2014 2014
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2014 2014
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.010 1.000 1 2014 2014
dbSNP: rs3740066
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		0.010 1.000 1 2007 2007