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: rs1060503770
rs1060503770
SDHD
5 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
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: rs1183365192
rs1183365192
RET
4 0.851 0.160 10 43106550 missense variant C/T snv 7.0E-06 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: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs121913308
rs121913308
RET
6 0.827 0.120 10 43114492 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
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: 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: rs1420960657
rs1420960657
SDHD
4 0.851 0.080 11 112093192 missense variant A/G snv 0.010 1.000 1 2004 2004
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: 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: rs28933406
rs28933406
HRAS ; LRRC56
27 0.667 0.480 11 533875 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs34682185
rs34682185
RET
4 0.851 0.120 10 43106382 missense variant G/A snv 6.3E-04 2.2E-04 0.010 1.000 1 2010 2010
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: 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: rs377767402
rs377767402
RET
4 0.882 0.120 10 43113663 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs377767404
rs377767404
RET
11 0.742 0.160 10 43114488 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs377767405
rs377767405
RET
5 0.827 0.120 10 43114489 missense variant G/A;C;T snv 0.010 1.000 1 1998 1998
dbSNP: rs377767430
rs377767430
RET
3 0.882 0.080 10 43120192 missense variant A/C;G snv 0.010 1.000 1 1998 1998
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