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: rs1060502543
rs1060502543
KIT
1 4 54727501 inframe deletion GAT/- delins 0.700 1.000 5 1998 2015
dbSNP: rs1057519700
rs1057519700
PDGFRA
1 4 54277981 missense variant C/A;G snv 0.710 1.000 3 2003 2006
dbSNP: rs121913264
rs121913264
PDGFRA
1 4 54285925 missense variant GA/AT mnv 0.700 1.000 3 2006 2014
dbSNP: rs1560418178
rs1560418178
KIT
1 4 54727909 missense variant G/A snv 0.700 1.000 3 1995 2007
dbSNP: rs1057520034
rs1057520034
KIT
1 4 54727447 missense variant TT/AA mnv 0.700 1.000 1 2006 2006
dbSNP: rs1057520035
rs1057520035
KIT
1 4 54727438 missense variant GG/TT mnv 0.700 1.000 1 2006 2006
dbSNP: rs1186206565
rs1186206565
PECAM1
1 17 64352432 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913262
rs121913262
PDGFRA
1 4 54285925 inframe deletion GACATCATG/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913267
rs121913267
PDGFRA
1 4 54285928 inframe deletion ATCATGCATGAT/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913269
rs121913269
PDGFRA
1 4 54285921 inframe deletion GAGACA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1553906053
rs1553906053
PDGFRA
1 4 54285925 inframe deletion CATCATGCATGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs200871174
rs200871174
MSLN ; MIR662
1 16 768475 missense variant C/T snv 7.8E-04 3.6E-04 0.010 1.000 1 2004 2004
dbSNP: rs371828253
rs371828253
CUX1
1 7 102273431 missense variant C/G snv 2.4E-05 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs75246947
rs75246947
MIR221 ; MIR222
1 X 45746891 intron variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs756847384
rs756847384
CASP4
1 11 104944794 missense variant G/C snv 3.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs780708976
rs780708976
KIT
1 4 54727456 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs1060502521
rs1060502521
KIT
1 4 54733162 frameshift variant G/- del 0.700 0
dbSNP: rs121913234
rs121913234
KIT
1 4 54727414 splice region variant AAACCCATGTATGAAGTACAGTGGAAG/- delins 0.700 0
dbSNP: rs1553887262
rs1553887262
KIT
1 4 54695552 frameshift variant -/T ins 0.700 0
dbSNP: rs1553887960
rs1553887960
KIT
1 4 54699760 frameshift variant TCAG/- delins 0.700 0
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