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: 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: rs121913523
rs121913523
KIT
2 1.000 0.040 4 54728092 missense variant T/A;C snv 0.730 0.900 10 2005 2019
dbSNP: rs1057519761
rs1057519761
KIT
2 4 54733175 missense variant T/G snv 0.700 1.000 3 2007 2013
dbSNP: rs1057519708
rs1057519708
KIT
2 1.000 0.040 4 54728096 missense variant T/A;G snv 0.700 1.000 2 2007 2011
dbSNP: rs121913265
rs121913265
PDGFRA
2 4 54285925 missense variant G/T snv 0.700 1.000 2 2012 2014
dbSNP: rs121913509
rs121913509
KIT
2 1.000 0.080 4 54736528 missense variant G/A snv 0.700 1.000 2 2005 2014
dbSNP: rs756581500
rs756581500
PDGFRA
2 4 54290319 missense variant G/A snv 8.0E-06 1.4E-05 0.020 1.000 2 2007 2013
dbSNP: rs1057520031
rs1057520031
KIT
2 1.000 0.040 4 54727440 missense variant A/C;G snv 0.700 1.000 1 2006 2006
dbSNP: rs1057520032
rs1057520032
KIT
2 1.000 4 54727438 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1057520033
rs1057520033
KIT
2 1.000 0.040 4 54727439 missense variant G/C snv 0.700 1.000 1 2006 2006
dbSNP: rs17084733
rs17084733
KIT
2 1.000 0.080 4 54738774 3 prime UTR variant G/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs200375589
rs200375589
KIT
2 1.000 0.040 4 54727442 missense variant G/A;C;T snv 6.0E-05 0.700 1.000 1 2006 2006
dbSNP: rs2855658
rs2855658
CYP1B1 ; RMDN2
2 2 38069747 3 prime UTR variant T/C snv 0.49 0.010 1.000 1 2013 2013
dbSNP: rs778015444
rs778015444
PDGFRA
2 1.000 0.040 4 54274917 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs7909236
rs7909236
CYP2C8
2 1.000 0.040 10 95069673 upstream gene variant G/T snv 0.18 0.010 1.000 1 2017 2017