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: 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: rs104894304
rs104894304
SDHD
6 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 9 2001 2016
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: rs104894306
rs104894306
SDHD ; TIMM8B
4 0.882 0.200 11 112087868 stop gained C/T snv 0.700 1.000 7 2001 2012
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: rs104894308
rs104894308
SDHD ; TIMM8B
4 0.882 0.200 11 112087933 stop gained G/A snv 0.700 1.000 6 2002 2010
dbSNP: rs1306475361
rs1306475361
SDHD
4 0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06 0.700 1.000 6 2002 2010
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: rs387906358
rs387906358
SDHD
4 0.851 0.200 11 112088884 frameshift variant TC/- delins 0.700 1.000 4 2001 2013
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: rs80338845
rs80338845
SDHD
9 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.700 1.000 3 2010 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: rs1566691921
rs1566691921
SDHD ; TIMM8B
3 0.882 0.200 11 112087856 splice acceptor variant GC/TT mnv 0.700 1.000 2 2009 2010
dbSNP: rs397514034
rs397514034
SDHD ; TIMM8B
4 0.882 0.200 11 112087896 frameshift variant TC/- delins 0.700 1.000 2 2001 2009
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: rs1131691065
rs1131691065
SDHD
4 0.882 0.200 11 112089011 stop gained G/A snv 0.700 1.000 1 2013 2013
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: rs587776649
rs587776649
SDHD ; TIMM8B
5 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 1.000 1 2008 2008
dbSNP: rs104894303
rs104894303
SDHD ; TIMM8B
2 1.000 0.160 11 112087910 stop gained C/T snv 0.700 0
dbSNP: rs1060503769
rs1060503769
SDHD
2 0.925 0.160 11 112094805 stop gained G/A snv 0.700 0
dbSNP: rs1060503770
rs1060503770
SDHD
5 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1060503773
rs1060503773
SDHD
2 0.925 0.160 11 112094882 frameshift variant T/- delins 0.700 0
dbSNP: rs121908983
rs121908983
SDHD
1 1.000 0.160 11 112088974 inframe insertion ATT/-;ATTATT delins 0.700 0
dbSNP: rs1555186662
rs1555186662
SDHD ; TIMM8B
1 1.000 0.160 11 112086924 frameshift variant GCTG/- delins 0.700 0