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: 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: 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: 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: rs1553887262
rs1553887262 		4 54695552 frameshift variant -/T ins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560395607
rs1560395607 		4 54698334 frameshift variant A/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
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: rs1057519907
rs1057519907 		0.925 0.120 4 54728057 missense variant A/C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519907
rs1057519907 		0.925 0.120 4 54728057 missense variant A/C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 9 1995 2011
dbSNP: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.760 1.000 8 2001 2014
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: rs1057520031
rs1057520031 		1.000 0.040 4 54727440 missense variant A/C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
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: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL 		0.700 0
dbSNP: rs3822214
rs3822214 		0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2008 2014
dbSNP: rs3822214
rs3822214 		0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs3822214
rs3822214 		0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3822214
rs3822214 		0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3822214
rs3822214 		0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018