Source: CURATED

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 8 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 8 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 8 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 8 1998 2014
dbSNP: rs72558199
rs72558199
ABCC2
1.000 0.080 10 99832069 stop gained C/T snv 4.2E-04 5.2E-04
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.700 1.000 2 1997 2010
dbSNP: rs4148398
rs4148398
ABCC2
10 99832865 intron variant A/G snv 0.70
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2018 2018
dbSNP: rs4362077
rs4362077
ABCC2
10 99828664 intron variant C/T snv 1.6E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4362077
rs4362077
ABCC2
10 99828664 intron variant C/T snv 1.6E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs72838129
rs72838129
ABCC2
10 99844724 intron variant T/C snv 5.4E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs146405172
rs146405172
ABCC2
1.000 0.160 10 99811603 splice donor variant G/A snv 8.0E-04 7.6E-04
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.700 0
dbSNP: rs34937870
rs34937870
ABCC2
1.000 0.080 10 99842094 splice donor variant G/A;T snv 1.2E-05; 4.8E-05
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.700 0
dbSNP: rs387906395
rs387906395
ABCC2
1.000 0.080 10 99808231 splice donor variant T/A;G snv 4.0E-06
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.700 0
dbSNP: rs387906396
rs387906396
ABCC2
1.000 0.080 10 99811604 splice donor variant T/C snv 1.4E-05
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.700 0
dbSNP: rs762914474
rs762914474
ABCC2
1.000 0.080 10 99834519 frameshift variant TT/- delins 4.0E-06
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.700 0
dbSNP: rs864309675
rs864309675
ABCC2
1.000 0.080 10 99799350 frameshift variant TG/- delins
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.700 0