Source: ALL

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: rs4148500
rs4148500
ABCC4
1.000 0.040 13 95166034 intron variant G/A snv 1.9E-02
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.010 1.000 1 2017 2017
dbSNP: rs4584690
rs4584690
ABCC4
13 95027878 intron variant T/C;G snv
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2019 2019
dbSNP: rs7317112
rs7317112
ABCC4
1.000 0.080 13 95271269 intron variant A/G snv 0.37
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		0.010 1.000 1 2015 2015
dbSNP: rs766715154
rs766715154
ABCC4
13 95206759 missense variant T/C;G snv 4.0E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2009 2009
dbSNP: rs7986087
rs7986087
ABCC4
1.000 0.120 13 95263491 intron variant C/T snv 9.7E-02
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs868853
rs868853
ABCC4 ; LOC102724149
1.000 0.120 13 95302822 upstream gene variant C/T snv 0.85
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs9524885
rs9524885
ABCC4
13 95283335 intron variant T/C snv 0.63
CUI: C0015672
Disease: Fatigue
Fatigue 		0.010 1.000 1 2012 2012
dbSNP: rs9524885
rs9524885
ABCC4
13 95283335 intron variant T/C snv 0.63
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2012 2012
dbSNP: rs9561778
rs9561778
ABCC4
0.851 0.120 13 95061461 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2009 2009
dbSNP: rs9561778
rs9561778
ABCC4
0.851 0.120 13 95061461 intron variant G/A;T snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2009 2009
dbSNP: rs9561778
rs9561778
ABCC4
0.851 0.120 13 95061461 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs9561778
rs9561778
ABCC4
0.851 0.120 13 95061461 intron variant G/A;T snv
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2009 2009
dbSNP: rs4148435
rs4148435
ABCC4
13 95247462 intron variant C/A snv 0.91
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 2 2016 2018