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: rs80338842
rs80338842
SDHD ; TIMM8B
8 0.790 0.280 11 112086910 start lost G/A;C snv 0.700 1.000 11 2001 2012
dbSNP: rs74315371
rs74315371
SDHB
1 1.000 0.040 1 17028721 missense variant C/T snv 0.800 1.000 10 2001 2014
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: rs876659329
rs876659329
SDHB
2 1.000 0.040 1 17044767 missense variant A/G;T snv 0.700 1.000 10 2001 2014
dbSNP: rs104894304
rs104894304
SDHD
6 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 9 2001 2016
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: rs104894306
rs104894306
SDHD ; TIMM8B
4 0.882 0.200 11 112087868 stop gained C/T snv 0.700 1.000 7 2001 2012
dbSNP: rs786202732
rs786202732
SDHB
5 0.882 0.080 1 17024041 missense variant A/G snv 0.800 1.000 7 2001 2007
dbSNP: rs876658367
rs876658367
SDHB
4 0.882 0.080 1 17024028 missense variant C/T snv 0.700 1.000 7 2001 2007
dbSNP: rs104894308
rs104894308
SDHD ; TIMM8B
4 0.882 0.200 11 112087933 stop gained G/A snv 0.700 1.000 6 2002 2010
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: rs786202100
rs786202100
SDHB
4 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 0.700 1.000 6 2004 2014
dbSNP: rs80338845
rs80338845
SDHD
9 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.800 1.000 6 2010 2015
dbSNP: rs1060503757
rs1060503757
SDHB
5 0.882 0.080 1 17024024 frameshift variant G/- delins 0.700 1.000 5 2005 2013
dbSNP: rs121908827
rs121908827
TMEM127
1 1.000 0.040 2 96254107 missense variant A/G snv 0.800 1.000 5 2010 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
dbSNP: rs387906358
rs387906358
SDHD
4 0.851 0.200 11 112088884 frameshift variant TC/- delins 0.700 1.000 4 2001 2013
dbSNP: rs587781270
rs587781270
SDHB
5 0.882 0.080 1 17033058 splice donor variant A/T snv 0.700 1.000 4 2006 2012
dbSNP: rs104893827
rs104893827
VHL
1 1.000 0.040 3 10142035 missense variant T/A;C snv 0.700 1.000 3 2013 2014
dbSNP: rs1050032491
rs1050032491
SDHD
4 0.851 0.240 11 112094832 stop gained T/A;C snv 7.0E-06 0.700 1.000 3 2001 2012
dbSNP: rs727504457
rs727504457
SDHB
2 0.925 0.080 1 17033086 missense variant A/G snv 0.700 1.000 3 2013 2014
dbSNP: rs77558292
rs77558292
RET
8 0.776 0.160 10 43113621 missense variant T/A;C;G snv 0.030 1.000 3 2005 2012
dbSNP: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003