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: rs587776653
rs587776653
SDHC
7 0.827 0.160 1 161356841 splice donor variant G/A;C;T snv 8.0E-06 0.700 1.000 6 2003 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: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.850 1.000 16 1998 2017
dbSNP: rs121913516
rs121913516
KIT
6 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.750 1.000 12 2004 2019
dbSNP: rs74315366
rs74315366
SDHB
6 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 0.700 1.000 10 2001 2014
dbSNP: rs398122805
rs398122805
SDHB
6 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 0.700 1.000 6 2006 2014
dbSNP: rs202101384
rs202101384
SDHB
6 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.700 1.000 4 2012 2017
dbSNP: rs1285675735
rs1285675735
SORD
6 0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs148634289
rs148634289
SDHD
6 0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs750380279
rs750380279
SDHA ; CCDC127
6 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.010 1.000 1 2019 2019
dbSNP: rs1057518903
rs1057518903
MEN1
6 0.882 0.160 11 64807890 splice region variant C/- delins 0.700 0
dbSNP: rs74315369
rs74315369
SDHB
6 0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 0.700 0
dbSNP: rs138996609
rs138996609
SDHB
5 0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 10 2003 2015
dbSNP: rs74315370
rs74315370
SDHB
5 0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 0.700 1.000 10 2003 2017
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: rs1131691049
rs1131691049
SDHB
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 1.000 9 2003 2013
dbSNP: rs397516836
rs397516836
SDHB
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 8 2006 2012
dbSNP: rs121908586
rs121908586
PDGFRA
5 1.000 0.080 4 54274869 missense variant T/A;C snv 0.720 1.000 7 2003 2014
dbSNP: rs267607032
rs267607032
SDHB
5 0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05 0.700 1.000 7 2006 2015
dbSNP: rs397516833
rs397516833
SDHB
5 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 6 2007 2016
dbSNP: rs74315368
rs74315368
SDHB
5 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 6 2002 2015
dbSNP: rs1060503757
rs1060503757
SDHB
5 0.882 0.080 1 17024024 frameshift variant G/- delins 0.700 1.000 5 2005 2013
dbSNP: rs201286421
rs201286421
SDHC
5 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 5 2008 2014
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: rs786201161
rs786201161
SDHB
5 0.882 0.080 1 17024076 splice acceptor variant T/C snv 0.700 1.000 5 2007 2014