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: rs374918502
rs374918502
NTRK1
2 0.925 0.080 1 156880056 missense variant C/T snv 6.0E-05 7.6E-06 0.010 1.000 1 2008 2008
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: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
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: rs267607170
rs267607170
VHL
3 0.882 0.200 3 10149814 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs397516444
rs397516444
VHL
3 0.882 0.200 3 10149808 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs5030805
rs5030805
VHL
7 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs5030824
rs5030824
VHL
9 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs5030827
rs5030827
VHL
4 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.010 1.000 1 2006 2006
dbSNP: rs869025630
rs869025630
VHL
2 0.925 0.080 3 10142158 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs869025648
rs869025648
VHL
4 0.851 0.240 3 10146587 synonymous variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs876659313
rs876659313
VHL
2 0.925 0.080 3 10146624 missense variant A/C;G snv 0.010 < 0.001 1 2003 2003
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: rs36119840
rs36119840
GDNF ; GDNF-AS1
6 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.010 1.000 1 1997 1997
dbSNP: rs1188254133
rs1188254133
VEGFA
4 0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06 0.010 1.000 1 2002 2002
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: rs1400537035
rs1400537035
SERPINE1
3 0.882 0.200 7 101131931 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
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: rs1416313401
rs1416313401
SYBU
5 0.827 0.160 8 109578004 missense variant A/G snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.060 1.000 6 2002 2013
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.040 1.000 4 1997 2019
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: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.030 1.000 3 2005 2008