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: rs121913517
rs121913517
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
Digestive System Diseases; Neoplasms 0.850 1.000 16 1998 2017
dbSNP: rs121913682
rs121913682
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
Neoplasms; Immune System Diseases 0.800 0.987 76 1998 2020
dbSNP: rs121913507
rs121913507
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
Neoplasms 0.800 1.000 12 2004 2019
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: 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: 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: rs121913513
rs121913513
0.776 0.120 4 54727495 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.760 1.000 17 1995 2016
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: rs121913516
rs121913516
1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
Digestive System Diseases; Neoplasms 0.750 1.000 12 2004 2019
dbSNP: rs121913514
rs121913514
0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.750 1.000 6 2006 2013
dbSNP: rs121913521
rs121913521
0.790 0.120 4 54727447 missense variant T/A;C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
Digestive System Diseases; Neoplasms 0.740 0.875 8 1999 2016
dbSNP: rs121913523
rs121913523
1.000 0.040 4 54728092 missense variant T/A;C snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
Digestive System Diseases; Neoplasms 0.730 0.900 10 2005 2019
dbSNP: rs121913235
rs121913235
0.925 0.080 4 54727437 missense variant T/A;C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
Digestive System Diseases; Neoplasms 0.730 1.000 9 1999 2018
dbSNP: rs121913507
rs121913507
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 8 1999 2018
dbSNP: rs121913513
rs121913513
0.776 0.120 4 54727495 missense variant T/C snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
Digestive System Diseases; Neoplasms 0.730 1.000 4 2006 2017
dbSNP: rs1057519710
rs1057519710
0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.710 1.000 10 1995 2013
dbSNP: rs121913506
rs121913506
0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
Digestive System Diseases; Neoplasms 0.710 1.000 5 2005 2014
dbSNP: rs121913520
rs121913520
1.000 0.080 4 54727443 missense variant G/A snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
Digestive System Diseases; Neoplasms 0.710 1.000 3 2007 2013
dbSNP: rs121913517
rs121913517
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.700 1.000 18 1995 2014
dbSNP: rs121913235
rs121913235
0.925 0.080 4 54727437 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.700 1.000 14 1995 2012
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: rs121913506
rs121913506
0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.700 1.000 8 1995 2011
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