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: rs16950650
rs16950650
ABCC4
1.000 0.080 13 95123178 intron variant C/T snv 4.7E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 1.000 1 2014 2014
dbSNP: rs4148441
rs4148441
ABCC4
13 95245953 intron variant A/G snv 0.91
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs4148546
rs4148546
ABCC4
13 95028031 intron variant G/A snv 0.55
CUI: C0023980
Disease: Longevity
Longevity 		0.800 1.000 1 2010 2010
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
dbSNP: rs16950650
rs16950650
ABCC4
1.000 0.080 13 95123178 intron variant C/T snv 4.7E-02
CUI: C3548801
Disease: response to irinotecan
response to irinotecan 		0.700 1.000 1 2014 2014
dbSNP: rs9524862
rs9524862
ABCC4
13 95242373 intron variant G/A snv 0.55
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs9556465
rs9556465
ABCC4
13 95205263 intron variant G/T snv 3.4E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9556465
rs9556465
ABCC4
13 95205263 intron variant G/T snv 3.4E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9590177
rs9590177
ABCC4
13 95083956 intron variant C/T snv 3.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9590177
rs9590177
ABCC4
13 95083956 intron variant C/T snv 3.4E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9590225
rs9590225
ABCC4
1.000 0.080 13 95263947 intron variant C/T snv 1.9E-02
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.700 1.000 1 2013 2013
dbSNP: rs11568658
rs11568658
ABCC4 ; SNORD13G
0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02
CUI: C0015967
Disease: Fever
Fever 		0.010 1.000 1 2015 2015
dbSNP: rs11568658
rs11568658
ABCC4 ; SNORD13G
0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		0.010 1.000 1 2015 2015
dbSNP: rs11568658
rs11568658
ABCC4 ; SNORD13G
0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 1.000 1 2015 2015
dbSNP: rs11568695
rs11568695
ABCC4
1.000 0.080 13 95044286 synonymous variant C/T snv 1.2E-02 4.7E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2019 2019
dbSNP: rs17268122
rs17268122
ABCC4
1.000 0.080 13 95192240 intron variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs17268122
rs17268122
ABCC4
1.000 0.080 13 95192240 intron variant G/A;C;T snv
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		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: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		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: 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: rs3742106
rs3742106
ABCC4
1.000 0.080 13 95021537 3 prime UTR variant A/C snv 0.41 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		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: 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