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: rs56199535
rs56199535
ABCC2
1.000 0.080 10 99818820 missense variant C/A;G;T snv 8.8E-05
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 1.000 1 1998 2014
dbSNP: rs72558200
rs72558200
ABCC2
1.000 0.080 10 99836125 missense variant G/A snv 9.1E-05 8.4E-05
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 1.000 1 1998 2014
dbSNP: rs72558201
rs72558201
ABCC2
1.000 0.080 10 99836193 missense variant A/G;T snv 4.0E-06; 3.6E-05
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 1.000 1 1998 2014
dbSNP: rs72558202
rs72558202
ABCC2
1.000 0.080 10 99845781 missense variant A/G snv 7.0E-06
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 1.000 1 1998 2014
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.060 1.000 6 2014 2018
dbSNP: rs717620
rs717620
ABCC2
0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2012 2017
dbSNP: rs717620
rs717620
ABCC2
0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.020 1.000 2 2012 2016
dbSNP: rs1226153645
rs1226153645
ABCC2
1.000 0.080 10 99813076 missense variant G/C snv
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.010 1.000 1 2003 2003
dbSNP: rs1382048442
rs1382048442
ABCC2
0.925 0.160 10 99797141 missense variant T/C snv 4.0E-06
CUI: C0002170
Disease: Alopecia
Alopecia 		0.010 1.000 1 2008 2008
dbSNP: rs1382048442
rs1382048442
ABCC2
0.925 0.160 10 99797141 missense variant T/C snv 4.0E-06
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2013 2013
dbSNP: rs17222723
rs17222723
ABCC2
0.925 0.080 10 99836239 missense variant T/A snv 4.5E-02 5.5E-02
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2009 2009
dbSNP: rs17222723
rs17222723
ABCC2
0.925 0.080 10 99836239 missense variant T/A snv 4.5E-02 5.5E-02
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.010 1.000 1 2008 2008
dbSNP: rs1885301
rs1885301
ABCC2
0.925 0.040 10 99781296 upstream gene variant A/G snv 0.58
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2013 2013
dbSNP: rs1885301
rs1885301
ABCC2
0.925 0.040 10 99781296 upstream gene variant A/G snv 0.58
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2013 2013
dbSNP: rs2002042
rs2002042
ABCC2
1.000 0.080 10 99828174 intron variant C/T snv 0.27
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.010 1.000 1 2008 2008
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2008 2008
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.010 1.000 1 2014 2014
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.010 1.000 1 2013 2013
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2012 2012
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2014 2014
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 1.000 1 2008 2008
dbSNP: rs2273697
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.010 < 0.001 1 2012 2012