Source: CURATED ×
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: rs80338844
rs80338844
SDHD
8 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 8 2000 2015
dbSNP: rs80338842
rs80338842
SDHD ; TIMM8B
5 0.790 0.280 11 112086910 start lost G/A;C snv 0.700 1.000 11 2001 2015
dbSNP: rs772551056
rs772551056
SDHB
6 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.700 1.000 9 2002 2016
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: rs80338845
rs80338845
SDHD
6 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.700 0
dbSNP: rs786201095
rs786201095
SDHB
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 18 2005 2018
dbSNP: rs80338843
rs80338843
SDHD ; TIMM8B
5 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 7 2000 2012
dbSNP: rs104894304
rs104894304
SDHD
6 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 4 2001 2013
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: 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: rs74315366
rs74315366
SDHB
6 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 0.700 1.000 14 2001 2017
dbSNP: rs104894305
rs104894305
SDHD ; TIMM8B
4 0.851 0.240 11 112087899 stop gained C/A snv 0.700 0
dbSNP: rs1050032491
rs1050032491
SDHD
4 0.851 0.240 11 112094832 stop gained T/A;C snv 7.0E-06 0.700 0
dbSNP: rs1306475361
rs1306475361
SDHD
4 0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06 0.700 0
dbSNP: rs1555187083
rs1555187083
SDHD
5 0.851 0.240 11 112089012 splice donor variant G/A;T snv 0.700 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: rs587776649
rs587776649
SDHD ; TIMM8B
5 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 0
dbSNP: rs74315369
rs74315369
SDHB
5 0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 0.700 0
dbSNP: rs397516836
rs397516836
SDHB
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 7 2002 2012
dbSNP: rs764575966
rs764575966
SDHC
4 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.700 1.000 7 2007 2016
dbSNP: rs201286421
rs201286421
SDHC
4 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 6 2008 2014
dbSNP: rs751000085
rs751000085
SDHB
4 0.882 0.080 1 17028680 stop gained G/A;C snv 8.0E-06 0.700 1.000 3 2006 2014
dbSNP: rs121908821
rs121908821
TMEM127
3 0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06 0.700 1.000 2 2010 2010
dbSNP: rs397516833
rs397516833
SDHB
5 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 2 2007 2008
dbSNP: rs1060503751
rs1060503751
SDHB
4 0.882 0.080 1 17028691 frameshift variant AG/- delins 0.700 0