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: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2014 2014
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 1999 1999
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2009
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: rs2066847
rs2066847
NOD2
18 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs76262710
rs76262710
RET
17 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.030 1.000 3 1996 1998
dbSNP: rs77316810
rs77316810
RET
10 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.760 1.000 33 1994 2017
dbSNP: rs77503355
rs77503355
RET
8 0.776 0.160 10 43113655 missense variant G/A;C;T snv 0.730 1.000 3 1998 2009
dbSNP: rs2439302
rs2439302
NRG1
9 0.776 0.200 8 32574851 intron variant G/C snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs77558292
rs77558292
RET
8 0.776 0.160 10 43113621 missense variant T/A;C;G snv 0.710 1.000 1 2013 2013
dbSNP: rs2435357
rs2435357
RET
8 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.900 0.923 13 2011 2019
dbSNP: rs377767397
rs377767397
RET
10 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.010 1.000 1 2003 2003
dbSNP: rs10748842
rs10748842
NRG3
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
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: rs377767398
rs377767398
RET
8 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.010 1.000 1 2003 2003
dbSNP: rs5351
rs5351
EDNRB ; EDNRB-AS1
7 0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57 0.010 1.000 1 2007 2007
dbSNP: rs377767391
rs377767391
RET
5 0.827 0.160 10 43113627 missense variant T/A;C;G snv 0.710 1.000 1 2003 2003
dbSNP: rs5352
rs5352
EDNRB ; EDNRB-AS1
5 0.827 0.200 13 77901095 missense variant C/T snv 1.0E-02 1.1E-02 0.010 1.000 1 1999 1999
dbSNP: rs6267
rs6267
COMT ; MIR4761
9 0.827 0.200 22 19962740 missense variant G/A;T snv 4.8E-05; 1.4E-02 0.010 1.000 1 2017 2017
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: 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