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: rs121913264
rs121913264
PDGFRA
1 4 54285925 missense variant GA/AT mnv 0.700 1.000 3 2006 2014
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 1.000 3 2005 2014
dbSNP: rs121913520
rs121913520
KIT
4 1.000 0.080 4 54727443 missense variant G/A snv 0.710 1.000 3 2007 2013
dbSNP: rs1560418178
rs1560418178
KIT
1 4 54727909 missense variant G/A snv 0.700 1.000 3 1995 2007
dbSNP: rs397516835
rs397516835
SDHB
4 0.925 0.080 1 17024040 missense variant C/G;T snv 0.700 1.000 3 2002 2012
dbSNP: rs993022333
rs993022333
KIT
5 0.851 0.080 4 54733173 missense variant A/C;T 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: rs1131691055
rs1131691055
SDHB
4 0.925 0.080 1 17044889 splice acceptor variant C/A;T snv 0.700 1.000 2 2009 2010
dbSNP: rs121913265
rs121913265
PDGFRA
2 4 54285925 missense variant G/T snv 0.700 1.000 2 2012 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: rs121913509
rs121913509
KIT
2 1.000 0.080 4 54736528 missense variant G/A snv 0.700 1.000 2 2005 2014
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: rs1557739966
rs1557739966
SDHB
3 0.925 0.080 1 17024017 missense variant A/G snv 0.700 1.000 2 1982 2015
dbSNP: rs587776652
rs587776652
SDHC
4 0.882 0.200 1 161314408 start lost G/A snv 0.700 1.000 2 2000 2012
dbSNP: rs786202200
rs786202200
SDHC
3 1.000 0.080 1 161328395 splice acceptor variant G/A;T snv 7.0E-06 0.700 1.000 2 2009 2014
dbSNP: rs876658461
rs876658461
SDHB
7 0.827 0.200 1 17023975 stop gained G/A snv 0.700 1.000 2 2007 2009
dbSNP: rs878854574
rs878854574
SDHB
3 0.925 0.080 1 17033147 splice acceptor variant T/G snv 0.700 1.000 2 2009 2010
dbSNP: rs969139366
rs969139366
PDGFRA
3 4 54277974 missense variant T/C snv 3.5E-05 0.020 1.000 2 2017 2017
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: rs1057519711
rs1057519711
KIT
5 0.882 0.240 4 54733168 missense variant T/A snv 0.010 1.000 1 2017 2017
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: rs1057520033
rs1057520033
KIT
2 1.000 0.040 4 54727439 missense variant G/C snv 0.700 1.000 1 2006 2006
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: rs1060503751
rs1060503751
SDHB
4 0.882 0.080 1 17028691 frameshift variant AG/- delins 0.700 1.000 1 2009 2009