Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1560395607
rs1560395607
KIT
1 4 54698334 frameshift variant A/- delins 0.700 0
dbSNP: rs1560417385
rs1560417385
KIT
1 4 54727420 inframe deletion CCATGTATGAAGTACAGTGGA/- del 0.700 0
dbSNP: rs1560417396
rs1560417396
KIT
1 4 54727421 protein altering variant CATGTATG/AA delins 0.700 0
dbSNP: rs1560417427
rs1560417427
KIT
1 4 54727433 protein altering variant ACAGTGGA/CC delins 0.700 0
dbSNP: rs1560417438
rs1560417438
KIT
1 4 54727436 frameshift variant GTGGAAGGTTGTTGAGGAG/- del 0.700 0
dbSNP: rs1560417535
rs1560417535
KIT
1 4 54727444 inframe deletion TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA/- del 0.700 0
dbSNP: rs1560417642
rs1560417642
KIT
1 4 54727482 protein altering variant -/ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA delins 0.700 0
dbSNP: rs1560417666
rs1560417666
KIT
1 4 54727488 protein altering variant -/CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC delins 0.700 0
dbSNP: rs1560417673
rs1560417673
KIT
1 4 54727489 inframe insertion -/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT delins 0.700 0
dbSNP: rs1560420761
rs1560420761
KIT
1 4 54731338 frameshift variant AC/- del 0.700 0
dbSNP: rs587776793
rs587776793
PDGFRA
1 4 54285934 inframe deletion CATGATTCGAAC/- del 0.700 0
dbSNP: rs587776794
rs587776794
PDGFRA
1 4 54274863 protein altering variant -/AGAGGG delins 0.700 0
dbSNP: rs587776795
rs587776795
PDGFRA
1 4 54274865 inframe deletion GGGTCATTGAATCAA/- delins 0.700 0
dbSNP: rs587776804
rs587776804
KIT
1 4 54727418 inframe deletion CCATGTATGAAGTAC/- delins 0.700 0
dbSNP: rs606231209
rs606231209
PDGFRA
1 4 54274883 inframe deletion AGCCCAGATGGACATGAA/- del 0.700 0
dbSNP: rs869025568
rs869025568
KIT
1 4 54727435 inframe deletion TGGAAG/- delins 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 15 2002 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 11 2008 2019
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2015 2015
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2007 2014
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.020 1.000 2 2007 2014
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 1.000 1 2013 2013