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: rs1057519702
rs1057519702 		1.000 0.040 4 54726020 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1057519704
rs1057519704 		0.882 0.080 4 54727425 missense variant T/A snv
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0280135
Disease: Ovarian germ cell tumour mixed
Ovarian germ cell tumour mixed 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C1333768
Disease: Gastric Gastrointestinal Stromal Tumor
Gastric Gastrointestinal Stromal Tumor 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 1999 1999
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: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0039538
Disease: Teratoma
Teratoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0036631
Disease: Seminoma
Seminoma 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs1057519711
rs1057519711 		0.882 0.240 4 54733168 missense variant T/A snv
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1057519711
rs1057519711 		0.882 0.240 4 54733168 missense variant T/A snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1057519711
rs1057519711 		0.882 0.240 4 54733168 missense variant T/A snv
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057519711
rs1057519711 		0.882 0.240 4 54733168 missense variant T/A snv
CUI: C1298180
Disease: Single tumor
Single tumor 		0.010 1.000 1 2012 2012
dbSNP: rs1057519761
rs1057519761 		4 54733175 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057520031
rs1057520031 		1.000 0.040 4 54727440 missense variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1057520033
rs1057520033 		1.000 0.040 4 54727439 missense variant G/C snv
CUI: C0206660
Disease: Germinoma
Germinoma 		Neoplasms 0.010 < 0.001 1 2004 2004
dbSNP: rs1060502550
rs1060502550 		1.000 0.040 4 54727488 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 < 0.001 1 2011 2011
dbSNP: rs1060502564
rs1060502564 		4 54695731 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C1298180
Disease: Single tumor
Single tumor 		0.010 1.000 1 2006 2006