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 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: rs397516836
rs397516836
SDHB
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 7 2002 2012
dbSNP: rs587778661
rs587778661
SDHC
4 0.925 0.080 1 161328466 missense variant C/T snv 7.0E-06 0.700 1.000 7 2009 2016
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: rs387906651
rs387906651
MAX ; LOC100506321
3 0.925 0.080 14 65093782 stop gained G/A snv 0.700 1.000 3 2011 2017
dbSNP: rs121908816
rs121908816
CIAO1 ; TMEM127
3 0.925 0.080 2 96265262 frameshift variant ACAG/- delins 2.1E-05 0.700 1.000 2 2010 2012
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: rs1050032491
rs1050032491
SDHD
4 0.851 0.240 11 112094832 stop gained T/A;C snv 7.0E-06 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: rs1193255946
rs1193255946
MAX
1 1.000 0.080 14 65077989 stop gained A/G;T snv 1.4E-05 0.700 0
dbSNP: rs121908818
rs121908818
CIAO1 ; TMEM127
2 0.925 0.080 2 96265224 stop gained C/G;T snv 7.0E-06 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: rs1553177672
rs1553177672
SDHB
1 1.000 0.080 1 17027762 frameshift variant TCTTC/CCTT delins 0.700 0
dbSNP: rs1553177679
rs1553177679
SDHB
1 1.000 0.080 1 17027799 stop gained G/A snv 0.700 0
dbSNP: rs1553177687
rs1553177687
SDHB
1 1.000 0.080 1 17027842 frameshift variant CTG/AGATACC delins 0.700 0