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: rs878854589
rs878854589
SDHD ; TIMM8B
3 0.882 0.200 11 112086916 frameshift variant -/C delins 0.700 0
dbSNP: rs104894304
rs104894304
SDHD
6 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 9 2001 2016
dbSNP: rs104894307
rs104894307
SDHD ; TIMM8B
5 0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06 0.700 1.000 7 2001 2012
dbSNP: rs104894302
rs104894302
SDHD
5 0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06 0.700 1.000 5 2000 2012
dbSNP: rs878854591
rs878854591
SDHD
3 0.882 0.200 11 112088938 frameshift variant C/- delins 0.700 0
dbSNP: rs104894305
rs104894305
SDHD ; TIMM8B
4 0.851 0.240 11 112087899 stop gained C/A snv 0.700 1.000 1 2013 2013
dbSNP: rs587782210
rs587782210
SDHD ; TIMM8B
4 0.882 0.200 11 112087959 stop gained C/A snv 0.700 0
dbSNP: rs80338843
rs80338843
SDHD ; TIMM8B
6 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 9 2000 2015
dbSNP: rs104894309
rs104894309
SDHD ; TIMM8B
7 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 2002 2008
dbSNP: rs587782604
rs587782604
SDHB
7 0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs587782703
rs587782703
SDHB
8 0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 0.700 0
dbSNP: rs772551056
rs772551056
SDHB
9 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs398122805
rs398122805
SDHB
6 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs80338844
rs80338844
SDHD
10 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 10 2000 2015
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: rs587776649
rs587776649
SDHD ; TIMM8B
5 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 1.000 1 2008 2008
dbSNP: rs878854590
rs878854590
SDHD
4 0.851 0.240 11 112088869 frameshift variant G/- delins 0.700 0
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: rs1131691065
rs1131691065
SDHD
4 0.882 0.200 11 112089011 stop gained G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs876658461
rs876658461
SDHB
7 0.827 0.200 1 17023975 stop gained G/A snv 0.700 0
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: rs74315366
rs74315366
SDHB
6 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs587776653
rs587776653
SDHC
7 0.827 0.160 1 161356841 splice donor variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs1555187083
rs1555187083
SDHD
5 0.851 0.240 11 112089012 splice donor variant G/A;T snv 0.700 1.000 1 2006 2006
dbSNP: rs1060501515
rs1060501515
PDGFRA
1 1.000 0.080 4 54261308 missense variant G/C snv 0.010 1.000 1 2011 2011