Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060499749
rs1060499749 		20 42352288 splice region variant G/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1217327426
rs1217327426 		1.000 0.080 20 42350679 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1371429276
rs1371429276 		1.000 0.080 20 42472359 missense variant G/A snv 1.4E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs370873414
rs370873414 		1.000 0.080 20 42102270 missense variant G/A snv 2.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs749647294
rs749647294 		1.000 0.080 20 42448250 missense variant A/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs761148007
rs761148007 		1.000 0.080 20 42098528 missense variant C/G;T snv 2.8E-05; 2.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs762135776
rs762135776 		20 42885815 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs2866943
rs2866943 		1.000 0.080 20 42079239 3 prime UTR variant C/T snv 0.20
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs490514
rs490514 		1.000 0.040 20 42807024 intron variant T/C snv 0.14
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6029959
rs6029959 		1.000 0.080 20 42076024 3 prime UTR variant C/A;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1812007
rs1812007 		1.000 0.040 20 42894400 intron variant C/T snv 5.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1883536
rs1883536 		1.000 0.040 20 42968931 non coding transcript exon variant G/A snv 6.0E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs206636
rs206636 		1.000 0.040 20 42928261 intron variant C/A snv 0.79
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs206637
rs206637 		1.000 0.040 20 42928665 intron variant A/C snv 9.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs206640
rs206640 		1.000 0.040 20 42931885 intron variant G/A snv 8.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs206652
rs206652 		1.000 0.040 20 42947823 intron variant C/T snv 9.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs206670
rs206670 		1.000 0.040 20 42912368 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs206683
rs206683 		1.000 0.040 20 42923380 intron variant G/A snv 8.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs208208
rs208208 		1.000 0.040 20 42897322 intron variant G/A snv 3.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2750074
rs2750074 		1.000 0.040 20 42899908 intron variant T/C snv 2.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs511805
rs511805 		1.000 0.040 20 42906248 intron variant C/A;T snv 6.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs535000
rs535000 		1.000 0.040 20 42903651 intron variant C/T snv 6.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs558832
rs558832 		1.000 0.040 20 42903960 intron variant G/C snv 9.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6016916
rs6016916 		1.000 0.040 20 42888730 intron variant T/C snv 4.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6016917
rs6016917 		1.000 0.040 20 42888751 intron variant C/T snv 4.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017