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: 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: rs121913509
rs121913509
KIT
2 1.000 0.080 4 54736528 missense variant G/A snv 0.700 1.000 2 2005 2014
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: rs1557739966
rs1557739966
SDHB
3 0.925 0.080 1 17024017 missense variant A/G snv 0.700 1.000 2 1982 2015
dbSNP: rs200245469
rs200245469
SDHB
4 0.925 0.080 1 17022724 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2009 2010
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: 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: 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
dbSNP: rs1209914140
rs1209914140
SDHB
3 0.925 0.080 1 17022687 frameshift variant -/CGCCTCTGTGAAG delins 4.0E-06 0.700 1.000 1 2013 2013
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: rs1553177678
rs1553177678
SDHB
3 0.925 0.080 1 17027798 frameshift variant T/- del 0.700 1.000 1 2013 2013
dbSNP: rs1553906053
rs1553906053
PDGFRA
1 4 54285925 inframe deletion CATCATGCATGA/- delins 0.700 1.000 1 2014 2014
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: rs398123690
rs398123690
SDHB
4 0.925 0.080 1 17044849 frameshift variant G/-;GGG delins 0.700 1.000 1 2015 2015
dbSNP: rs786201316
rs786201316
SDHB
4 0.925 0.080 1 17028712 frameshift variant T/CC delins 0.700 1.000 1 2006 2006