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: 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: 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: 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: rs113560320
rs113560320
SDHAF2
3 0.925 0.080 11 61437820 missense variant G/A snv 0.700 1.000 9 1981 2017
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: rs397516836
rs397516836
SDHB
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 7 2002 2012
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: rs727504457
rs727504457
SDHB
2 0.925 0.080 1 17033086 missense variant A/G snv 0.700 1.000 6 2001 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: rs1555340550
rs1555340550
MAX
1 1.000 0.080 14 65077980 frameshift variant C/- delins 0.700 1.000 3 1992 1995
dbSNP: rs387906650
rs387906650
MAX
3 0.925 0.080 14 65077985 stop gained G/A snv 8.0E-06 0.700 1.000 3 2011 2013
dbSNP: rs387906651
rs387906651
MAX ; LOC100506321
3 0.925 0.080 14 65093782 stop gained G/A snv 0.700 1.000 3 2011 2017
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: rs749527870
rs749527870
SDHAF2
1 1.000 0.080 11 61437849 splice donor variant G/A snv 0.700 1.000 2 2012 2015
dbSNP: rs727503490
rs727503490
TMEM127
1 1.000 0.080 2 96254934 frameshift variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs104894305
rs104894305
SDHD ; TIMM8B
4 0.851 0.240 11 112087899 stop gained C/A snv 0.700 0
dbSNP: rs1060500101
rs1060500101
MAX
1 1.000 0.080 14 65077987 frameshift variant ACTGGATATAT/- delins 0.700 0
dbSNP: rs1060503751
rs1060503751
SDHB
4 0.882 0.080 1 17028691 frameshift variant AG/- delins 0.700 0
dbSNP: rs1131691049
rs1131691049
SDHB
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 0
dbSNP: rs1131691052
rs1131691052
SDHB
2 1.000 0.080 1 17023972 splice donor variant C/G;T snv 0.700 0
dbSNP: rs121908822
rs121908822
TMEM127
2 0.925 0.080 2 96254974 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs121908826
rs121908826
TMEM127
3 0.882 0.080 2 96254117 splice acceptor variant T/C;G snv 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