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: rs1564500612
rs1564500612
RET
1 1.000 0.080 10 43123732 frameshift variant -/T delins 0.700 0
dbSNP: rs1800858
rs1800858
RET
4 0.851 0.160 10 43100520 synonymous variant A/C;G snv 0.73 0.040 1.000 4 1999 2014
dbSNP: rs2506004
rs2506004
RET
3 0.882 0.160 10 43086825 intron variant A/C;T snv 0.050 1.000 5 2011 2015
dbSNP: rs1800860
rs1800860
RET
3 0.882 0.080 10 43111239 missense variant A/G snv 0.70 0.74 0.010 1.000 1 2010 2010
dbSNP: rs1864403
rs1864403
RET
1 1.000 0.080 10 43109502 intron variant A/G snv 0.79 0.700 1.000 1 2009 2009
dbSNP: rs2505538
rs2505538
RET
1 1.000 0.080 10 43095955 intron variant A/G snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs193922699
rs193922699
RET
1 1.000 0.080 10 43114478 splice acceptor variant A/G snv 0.700 0
dbSNP: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.720 1.000 2 2009 2013
dbSNP: rs2435356
rs2435356
RET
1 1.000 0.080 10 43087702 intron variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs2505998
rs2505998
RET
2 0.925 0.080 10 43075477 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1800863
rs1800863
RET
4 0.851 0.160 10 43120185 synonymous variant C/A;G snv 1.6E-05; 0.21 0.020 1.000 2 1999 2010
dbSNP: rs377767432
rs377767432
RET
2 0.925 0.160 10 43121980 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3123655
rs3123655
RET
1 1.000 0.080 10 43099746 intron variant C/G snv 0.33 0.700 1.000 1 2009 2009
dbSNP: rs377767396
rs377767396
RET
2 0.925 0.080 10 43113623 missense variant C/G;T snv 0.020 0.500 2 1994 1998
dbSNP: rs79890926
rs79890926
RET
6 0.827 0.160 10 43113656 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2007 2007
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: rs148935214
rs148935214
RET
3 0.882 0.240 10 43114546 missense variant C/T snv 3.2E-04 3.8E-04 0.010 1.000 1 2009 2009
dbSNP: rs1800862
rs1800862
RET
2 0.925 0.160 10 43119646 synonymous variant C/T snv 4.5E-02 3.9E-02 0.010 1.000 1 2002 2002
dbSNP: rs2506021
rs2506021
RET
1 1.000 0.080 10 43088700 intron variant C/T snv 0.40 0.700 1.000 1 2009 2009
dbSNP: rs2742234
rs2742234
RET
2 0.925 0.080 10 43117161 intron variant C/T snv 0.77 0.800 1.000 1 2009 2009
dbSNP: rs76764689
rs76764689
RET
2 0.925 0.080 10 43100480 missense variant C/T snv 0.700 0
dbSNP: rs779996040
rs779996040
RET
1 1.000 0.080 10 43119575 missense variant C/T snv 8.3E-06 0.700 0
dbSNP: rs199529397
rs199529397
RET
2 0.925 0.080 10 43109070 missense variant G/A snv 5.6E-05 6.3E-05 0.020 1.000 2 2010 2016
dbSNP: rs76397662
rs76397662
RET
4 0.851 0.200 10 43102345 missense variant G/A snv 7.9E-04 2.9E-04 0.020 1.000 2 2010 2016
dbSNP: rs2742236
rs2742236
RET
1 1.000 0.080 10 43125103 intron variant G/A snv 0.57 0.700 1.000 1 2009 2009