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: 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: 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: 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: 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