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: 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
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: rs1560417385
rs1560417385 		4 54727420 inframe deletion CCATGTATGAAGTACAGTGGA/- del
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560417396
rs1560417396 		4 54727421 protein altering variant CATGTATG/AA delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560417427
rs1560417427 		4 54727433 protein altering variant ACAGTGGA/CC delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560417438
rs1560417438 		4 54727436 frameshift variant GTGGAAGGTTGTTGAGGAG/- del
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560417535
rs1560417535 		4 54727444 inframe deletion TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA/- del
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: 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: 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: 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: 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: 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: 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