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: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.740 1.000 4 1997 2019
dbSNP: rs869025648
rs869025648
VHL
4 0.851 0.240 3 10146587 synonymous variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs146646971
rs146646971
RET
7 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.020 1.000 2 2016 2018
dbSNP: rs74315370
rs74315370
SDHB
5 0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 0.800 1.000 17 2001 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 5 2006 2017
dbSNP: rs202101384
rs202101384
SDHB
6 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.700 1.000 4 2012 2017
dbSNP: rs377767406
rs377767406
RET
9 0.776 0.120 10 43114491 missense variant G/A;T snv 4.0E-05; 4.0E-06 0.030 1.000 3 2006 2017
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 < 0.001 2 2014 2017
dbSNP: rs62624461
rs62624461
SDHAF3
4 0.851 0.080 7 97117880 missense variant T/C snv 2.0E-02 1.8E-02 0.010 1.000 1 2017 2017
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 1.000 16 2003 2016
dbSNP: rs772551056
rs772551056
SDHB
9 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.800 1.000 11 2003 2016
dbSNP: rs104894304
rs104894304
SDHD
6 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 9 2001 2016
dbSNP: rs397516833
rs397516833
SDHB
5 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 6 2007 2016
dbSNP: rs786201063
rs786201063
SDHB
5 0.882 0.080 1 17033059 splice donor variant C/T snv 0.700 1.000 5 2006 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs138996609
rs138996609
SDHB
5 0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 19 2001 2015
dbSNP: rs74315368
rs74315368
SDHB
5 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 15 2001 2015
dbSNP: rs80338844
rs80338844
SDHD
10 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.800 1.000 13 2000 2015
dbSNP: rs786201095
rs786201095
SDHB
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 12 2005 2015
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 9 2000 2015
dbSNP: rs267607032
rs267607032
SDHB
5 0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05 0.700 1.000 7 2006 2015
dbSNP: rs201743423
rs201743423
MAX
1 1.000 0.040 14 65102315 missense variant C/A snv 8.9E-05 7.0E-05 0.700 1.000 6 2011 2015
dbSNP: rs80338845
rs80338845
SDHD
9 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.800 1.000 6 2010 2015