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: rs2274407
rs2274407
ABCC4
0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 1.000 1 2017 2017
dbSNP: rs2274407
rs2274407
ABCC4
0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2009 2009
dbSNP: rs2274407
rs2274407
ABCC4
0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2017 2017
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: 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: rs3765534
rs3765534
ABCC4
0.882 0.200 13 95163161 missense variant C/T snv 2.3E-02 1.2E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2017 2017
dbSNP: rs3765534
rs3765534
ABCC4
0.882 0.200 13 95163161 missense variant C/T snv 2.3E-02 1.2E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2018 2018
dbSNP: rs3765534
rs3765534
ABCC4
0.882 0.200 13 95163161 missense variant C/T snv 2.3E-02 1.2E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2010 2010
dbSNP: rs3765534
rs3765534
ABCC4
0.882 0.200 13 95163161 missense variant C/T snv 2.3E-02 1.2E-02
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.010 1.000 1 2010 2010