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: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0334664
Disease: Mast Cell Neoplasm
Mast Cell Neoplasm 		Neoplasms 0.020 1.000 2 1996 1998
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: C0036631
Disease: Seminoma
Seminoma 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0036631
Disease: Seminoma
Seminoma 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs121913679
rs121913679 		1.000 0.120 4 54728121 missense variant G/A snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1991 2000
dbSNP: rs121913680
rs121913680 		0.925 0.200 4 54727515 missense variant G/A snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1991 2000
dbSNP: rs121913684
rs121913684 		0.925 0.120 4 54733094 missense variant A/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1991 2000
dbSNP: rs121913687
rs121913687 		1.000 0.120 4 54736552 missense variant A/C snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1991 2000
dbSNP: rs28933371
rs28933371 		1.000 0.120 4 54727519 missense variant T/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1991 2000
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2001 2001
dbSNP: rs3822214
rs3822214 		0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2003 2003
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: 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: C0206660
Disease: Germinoma
Germinoma 		Neoplasms 0.010 < 0.001 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: 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: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
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: rs121913513
rs121913513 		0.776 0.120 4 54727495 missense variant T/C snv
CUI: C0860594
Disease: Malignant melanoma, metastatic
Malignant melanoma, metastatic 		Neoplasms 0.010 1.000 1 2005 2005