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: rs6554199
rs6554199 		0.925 0.040 4 54656321 upstream gene variant G/T snv 0.54
CUI: C1321756
Disease: Achalasia
Achalasia 		0.020 0.500 2 2012 2012
dbSNP: rs2237025
rs2237025 		0.882 0.080 4 54675713 intron variant T/C snv 0.60
CUI: C1321756
Disease: Achalasia
Achalasia 		0.010 1.000 1 2012 2012
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3822214
rs3822214 		0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs72550822
rs72550822 		0.925 0.080 4 54727265 missense variant G/A snv 5.5E-04 1.2E-03
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs145602440
rs145602440 		1.000 0.080 4 54733118 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs751005114
rs751005114 		1.000 0.080 4 54731395 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs760112920
rs760112920 		0.925 0.120 4 54731930 missense variant G/T snv 4.0E-06 3.5E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C1112486
Disease: Aggressive Systemic Mastocytosis
Aggressive Systemic Mastocytosis 		Neoplasms; Immune System Diseases 0.020 1.000 2 2014 2014
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C1112486
Disease: Aggressive Systemic Mastocytosis
Aggressive Systemic Mastocytosis 		Neoplasms; Immune System Diseases 0.020 1.000 2 2014 2014
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C4749271
Disease: Aleukemic mast cell leukemia
Aleukemic mast cell leukemia 		Neoplasms; Immune System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C4749271
Disease: Aleukemic mast cell leukemia
Aleukemic mast cell leukemia 		Neoplasms; Immune System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0002792
Disease: anaphylaxis
anaphylaxis 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0002792
Disease: anaphylaxis
anaphylaxis 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057520032
rs1057520032 		1.000 4 54727438 stop gained G/A;C snv 4.0E-06
CUI: C2698309
Disease: B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged 		0.700 0
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C2242987
Disease: Benign Mastocytoma
Benign Mastocytoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 1996 1998
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C2242987
Disease: Benign Mastocytoma
Benign Mastocytoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 1996 1998
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C2242987
Disease: Benign Mastocytoma
Benign Mastocytoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C2242987
Disease: Benign Mastocytoma
Benign Mastocytoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C3854434
Disease: Bone marrow infiltration
Bone marrow infiltration 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010