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: rs786201161
rs786201161
SDHB
5 0.882 0.080 1 17024076 splice acceptor variant T/C snv 0.700 0
dbSNP: rs786202732
rs786202732
SDHB
5 0.882 0.080 1 17024041 missense variant A/G snv 0.700 0
dbSNP: rs786203067
rs786203067
SDHD
2 1.000 0.080 11 112088992 frameshift variant ACTC/- delins 0.700 0
dbSNP: rs786203800
rs786203800
SDHB
2 1.000 0.080 1 17053994 stop gained A/T snv 0.700 0
dbSNP: rs794728946
rs794728946
SDHB
2 1.000 0.080 1 17027763 stop gained C/A;G snv 0.700 0
dbSNP: rs80338845
rs80338845
SDHD
9 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.700 0
dbSNP: rs80338846
rs80338846
SDHD
3 0.882 0.080 11 112088981 missense variant T/C snv 0.700 0
dbSNP: rs80338847
rs80338847
SDHD
3 0.882 0.200 11 112094906 missense variant T/C;G snv 0.700 0
dbSNP: rs876658367
rs876658367
SDHB
4 0.882 0.080 1 17024028 missense variant C/T snv 0.700 0
dbSNP: rs876658540
rs876658540
SDHB
2 1.000 0.080 1 17024049 missense variant C/A snv 0.700 0
dbSNP: rs878854575
rs878854575
SDHB
4 0.882 0.080 1 17033075 stop gained T/A snv 0.700 0
dbSNP: rs886041237
rs886041237
SDHD ; TIMM8B
2 1.000 0.080 11 112087856 frameshift variant -/C delins 0.700 0
dbSNP: rs898854295
rs898854295
SDHC
2 1.000 0.080 1 161356812 missense variant A/G snv 2.8E-05 0.700 0
dbSNP: rs753554501
rs753554501
SDHAF2
1 1.000 0.080 11 61438048 frameshift variant -/A ins 4.0E-06 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 7 2000 2012
dbSNP: rs1480267715
rs1480267715
SDHB
1 1.000 0.080 1 17028671 frameshift variant AATCC/- delins 4.0E-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: rs762812025
rs762812025
SDHB
4 0.882 0.080 1 17022689 frameshift variant CT/- delins 4.0E-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 1.000 9 2002 2016
dbSNP: rs74315367
rs74315367
SDHB
5 0.882 0.080 1 17024025 missense variant G/C snv 4.0E-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: rs747198089
rs747198089
SDHB
2 1.000 0.080 1 17044873 frameshift variant G/- delins 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: 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: rs886039439
rs886039439
TMEM127
2 1.000 0.080 2 96254061 stop gained A/T snv 8.0E-06 2.8E-05 0.700 1.000 3 2010 2016