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: rs1560417642
rs1560417642 		4 54727482 protein altering variant -/ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560417666
rs1560417666 		4 54727488 protein altering variant -/CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560417673
rs1560417673 		4 54727489 inframe insertion -/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560419312
rs1560419312 		1.000 0.120 4 54729344 missense variant T/G snv
CUI: C0016689
Disease: Freckles
Freckles 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1560419312
rs1560419312 		1.000 0.120 4 54729344 missense variant T/G snv
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1560419312
rs1560419312 		1.000 0.120 4 54729344 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 0.700 0
dbSNP: rs1560419312
rs1560419312 		1.000 0.120 4 54729344 missense variant T/G snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1560420761
rs1560420761 		4 54731338 frameshift variant AC/- del
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs387907217
rs387907217 		0.882 0.120 4 54727907 missense variant T/C snv
CUI: C4016297
Disease: PIEBALDISM, PROGRESSIVE
PIEBALDISM, PROGRESSIVE 		0.700 0
dbSNP: rs587776804
rs587776804 		4 54727418 inframe deletion CCATGTATGAAGTAC/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		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: rs753212327
rs753212327 		1.000 0.080 4 54727275 missense variant C/A;G;T snv 4.0E-06
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726671
rs794726671 		1.000 0.120 4 54727520 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 0
dbSNP: rs794726672
rs794726672 		1.000 0.120 4 54728055 frameshift variant AA/- delins
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726673
rs794726673 		1.000 0.120 4 54727448 frameshift variant -/G delins
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726674
rs794726674 		1.000 0.120 4 54695696 frameshift variant G/- delins
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726675
rs794726675 		1.000 0.120 4 54727928 splice donor 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 0.700 0
dbSNP: rs869025568
rs869025568 		4 54727435 inframe deletion TGGAAG/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913505
rs121913505 		0.925 0.080 4 54695598 missense variant G/A snv 2.0E-05
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 1997 1997
dbSNP: rs121913505
rs121913505 		0.925 0.080 4 54695598 missense variant G/A snv 2.0E-05
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 1997 1997
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0024897
Disease: Mastocytoma
Mastocytoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 1996 1998
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: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0334664
Disease: Mast Cell Neoplasm
Mast Cell Neoplasm 		Neoplasms 0.020 1.000 2 1996 1998
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0024897
Disease: Mastocytoma
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