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: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.830 0.667 3 2010 2015
dbSNP: rs1557739966
rs1557739966
SDHB
3 0.925 0.080 1 17024017 missense variant A/G snv 0.700 1.000 2 1982 2015
dbSNP: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs398123690
rs398123690
SDHB
4 0.925 0.080 1 17044849 frameshift variant G/-;GGG delins 0.700 1.000 1 2015 2015
dbSNP: rs942160050
rs942160050
SDHC
3 0.882 0.080 1 161356685 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121917755
rs121917755
SDHB
1 1.000 0.040 1 17028724 missense variant G/A;C snv 8.0E-06 0.800 1.000 10 2001 2014
dbSNP: rs74315366
rs74315366
SDHB
6 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 0.700 1.000 10 2001 2014
dbSNP: rs74315371
rs74315371
SDHB
1 1.000 0.040 1 17028721 missense variant C/T snv 0.800 1.000 10 2001 2014
dbSNP: rs876659329
rs876659329
SDHB
2 1.000 0.040 1 17044767 missense variant A/G;T snv 0.700 1.000 10 2001 2014
dbSNP: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.850 1.000 8 2002 2014
dbSNP: rs398122805
rs398122805
SDHB
6 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 0.700 1.000 6 2006 2014
dbSNP: rs786202100
rs786202100
SDHB
4 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 0.700 1.000 6 2004 2014
dbSNP: rs121908827
rs121908827
TMEM127
1 1.000 0.040 2 96254107 missense variant A/G snv 0.800 1.000 5 2010 2014
dbSNP: rs121908828
rs121908828
TMEM127
1 1.000 0.040 2 96254106 missense variant C/A;T snv 4.0E-06 0.800 1.000 5 2010 2014
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.820 1.000 5 2005 2014
dbSNP: rs786201161
rs786201161
SDHB
5 0.882 0.080 1 17024076 splice acceptor variant T/C snv 0.700 1.000 5 2007 2014
dbSNP: rs104893827
rs104893827
VHL
1 1.000 0.040 3 10142035 missense variant T/A;C snv 0.700 1.000 3 2013 2014
dbSNP: rs397516440
rs397516440
VHL
4 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.800 1.000 3 2013 2014
dbSNP: rs5030808
rs5030808
VHL
3 0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 0.800 1.000 3 2013 2014
dbSNP: rs727504457
rs727504457
SDHB
2 0.925 0.080 1 17033086 missense variant A/G snv 0.700 1.000 3 2013 2014
dbSNP: rs762812025
rs762812025
SDHB
4 0.882 0.080 1 17022689 frameshift variant CT/- delins 4.0E-06 0.700 1.000 3 2004 2014
dbSNP: rs75234356
rs75234356
RET
14 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.020 1.000 2 2010 2014
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 1.000 10 2006 2013
dbSNP: rs786203251
rs786203251
SDHB
5 0.882 0.080 1 17022649 missense variant G/A;T snv 0.700 1.000 10 1992 2013
dbSNP: rs1131691049
rs1131691049
SDHB
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 1.000 9 2003 2013