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 0.700 0
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.030 1.000 3 2004 2008
dbSNP: rs775984846
rs775984846
NTRK1
2 1.000 1 156881535 missense variant G/A;C snv 3.5E-05 0.020 1.000 2 2006 2008
dbSNP: rs1293540396
rs1293540396
NTRK1
1 1.000 1 156868557 synonymous variant C/T snv 1.8E-05 2.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs146838520
rs146838520
RET
4 0.851 0.120 10 43120129 missense variant C/T snv 4.0E-06 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs1490900384
rs1490900384
GFRA2
1 1.000 8 21705094 synonymous variant G/A snv 4.1E-06 0.010 1.000 1 2002 2002
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.010 1.000 1 2011 2011
dbSNP: rs2245020
rs2245020
GFRA1
1 1.000 10 116125439 missense variant G/A;C snv 0.57 0.010 1.000 1 2002 2002
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs75234356
rs75234356
RET
14 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs75873440
rs75873440
RET
10 0.763 0.200 10 43112173 missense variant G/A;T snv 4.4E-05 0.010 1.000 1 2012 2012