Disease: Gastrointestinal Stromal Tumors ×
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: 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: rs17084733
rs17084733 		1.000 0.080 4 54738774 3 prime UTR variant G/A snv 0.10
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs780708976
rs780708976 		4 54727456 missense variant T/A;C snv 1.6E-05
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2014
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2014
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2004 2013
dbSNP: rs1060502543
rs1060502543 		4 54727501 inframe deletion GAT/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 5 1998 2015
dbSNP: rs1057519713
rs1057519713 		0.925 0.120 4 54736498 missense variant G/C snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2007 2013
dbSNP: rs1057519761
rs1057519761 		4 54733175 missense variant T/G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2007 2013
dbSNP: rs121913514
rs121913514 		0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2005 2014
dbSNP: rs1560418178
rs1560418178 		4 54727909 missense variant G/A snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 1995 2007
dbSNP: rs993022333
rs993022333 		0.851 0.080 4 54733173 missense variant A/C;T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2007 2013
dbSNP: rs1057519708
rs1057519708 		1.000 0.040 4 54728096 missense variant T/A;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2007 2011
dbSNP: rs121913509
rs121913509 		1.000 0.080 4 54736528 missense variant G/A snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2005 2014
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: rs1057520032
rs1057520032 		1.000 4 54727438 stop gained G/A;C snv 4.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs1057520033
rs1057520033 		1.000 0.040 4 54727439 missense variant G/C snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs1057520034
rs1057520034 		4 54727447 missense variant TT/AA mnv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs1057520035
rs1057520035 		4 54727438 missense variant GG/TT mnv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs200375589
rs200375589 		1.000 0.040 4 54727442 missense variant G/A;C;T snv 6.0E-05
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs1060502521
rs1060502521 		4 54733162 frameshift variant G/- del
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913234
rs121913234 		4 54727414 splice region variant AAACCCATGTATGAAGTACAGTGGAAG/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913685
rs121913685 		0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 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: rs1553887960
rs1553887960 		4 54699760 frameshift variant TCAG/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0