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: rs993022333
rs993022333
KIT
5 0.851 0.080 4 54733173 missense variant A/C;T snv 0.700 1.000 3 2007 2013
dbSNP: rs969139366
rs969139366
PDGFRA
3 4 54277974 missense variant T/C snv 3.5E-05 0.020 1.000 2 2017 2017
dbSNP: rs917411291
rs917411291
GZMM
9 0.851 0.360 19 544072 start lost A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs878854575
rs878854575
SDHB
4 0.882 0.080 1 17033075 stop gained T/A snv 0.700 1.000 1 2009 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: rs878854572
rs878854572
SDHB
3 0.925 0.080 1 17044835 frameshift variant A/- delins 0.700 0
dbSNP: rs876658713
rs876658713
SDHB
3 0.925 0.080 1 17033125 missense variant T/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs876658461
rs876658461
SDHB
7 0.827 0.200 1 17023975 stop gained G/A snv 0.700 1.000 2 2007 2009
dbSNP: rs869025568
rs869025568
KIT
1 4 54727435 inframe deletion TGGAAG/- delins 0.700 0
dbSNP: rs794728947
rs794728947
SDHB
4 0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06 0.700 0
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
dbSNP: rs786203506
rs786203506
SDHB
4 0.925 0.080 1 17028649 stop gained G/A;C;T snv 0.700 0
dbSNP: rs786203251
rs786203251
SDHB
5 0.882 0.080 1 17022649 missense variant G/A;T snv 0.700 1.000 10 1992 2013
dbSNP: rs786202732
rs786202732
SDHB
5 0.882 0.080 1 17024041 missense variant A/G snv 0.700 0
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: rs786202100
rs786202100
SDHB
4 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 0.700 1.000 6 2004 2014
dbSNP: rs786201316
rs786201316
SDHB
4 0.925 0.080 1 17028712 frameshift variant T/CC delins 0.700 1.000 1 2006 2006
dbSNP: rs786201161
rs786201161
SDHB
5 0.882 0.080 1 17024076 splice acceptor variant T/C snv 0.700 1.000 5 2007 2014
dbSNP: rs786201095
rs786201095
SDHB
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 17 2005 2018
dbSNP: rs786201063
rs786201063
SDHB
5 0.882 0.080 1 17033059 splice donor variant C/T snv 0.700 1.000 5 2006 2016
dbSNP: rs780708976
rs780708976
KIT
1 4 54727456 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2005 2005
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: rs772551056
rs772551056
SDHB
9 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.700 1.000 11 2003 2016
dbSNP: rs764575966
rs764575966
SDHC
8 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.700 1.000 7 2007 2016
dbSNP: rs762812025
rs762812025
SDHB
4 0.882 0.080 1 17022689 frameshift variant CT/- delins 4.0E-06 0.700 1.000 3 2004 2014