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: rs121913523
rs121913523
KIT
2 1.000 0.040 4 54728092 missense variant T/A;C snv 0.730 0.900 10 2005 2019
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: rs786203251
rs786203251
SDHB
5 0.882 0.080 1 17022649 missense variant G/A;T snv 0.700 1.000 10 1992 2013
dbSNP: rs121913235
rs121913235
KIT
3 0.925 0.080 4 54727437 missense variant T/A;C;G snv 0.730 1.000 9 1999 2018
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.760 1.000 8 2001 2014
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.740 0.875 8 1999 2016
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: 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: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.710 1.000 5 2005 2014
dbSNP: rs121913513
rs121913513
KIT
10 0.776 0.120 4 54727495 missense variant T/C snv 0.730 1.000 4 2006 2017
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: rs587778661
rs587778661
SDHC
4 0.925 0.080 1 161328466 missense variant C/T snv 7.0E-06 0.700 1.000 4 2009 2016
dbSNP: rs1057519700
rs1057519700
PDGFRA
1 4 54277981 missense variant C/A;G snv 0.710 1.000 3 2003 2006
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.030 1.000 3 2004 2013
dbSNP: rs1057519713
rs1057519713
KIT
3 0.925 0.120 4 54736498 missense variant G/C snv 0.700 1.000 3 2007 2013
dbSNP: rs1057519761
rs1057519761
KIT
2 4 54733175 missense variant T/G snv 0.700 1.000 3 2007 2013
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: rs587782243
rs587782243
SDHB
5 0.882 0.080 1 17033060 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 3 1990 2013
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