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: 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: 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: rs16879552
rs16879552
NRG1
3 0.882 0.080 8 32553698 intron variant C/T snv 0.10 0.850 0.833 6 2009 2019
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: rs7835688
rs7835688
NRG1
2 0.925 0.080 8 32553981 intron variant G/A;C;T snv 0.050 0.800 5 2014 2019
dbSNP: rs2506030
rs2506030 		1 1.000 0.080 10 42952399 intergenic variant A/G snv 0.35 0.030 1.000 3 2015 2019
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: rs10206961
rs10206961
VAMP5
2 0.925 0.080 2 85587861 intron variant C/T snv 0.53 0.020 1.000 2 2016 2018
dbSNP: rs1254900
rs1254900
VAMP5
4 0.851 0.120 2 85589211 intron variant A/G snv 0.81 0.020 1.000 2 2016 2018
dbSNP: rs2565200
rs2565200
RET
2 0.925 0.160 10 43127485 3 prime UTR variant T/A;C snv 0.710 1.000 2 2009 2014
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: rs7005606
rs7005606
NRG1
3 0.925 0.080 8 32543983 intron variant T/G snv 0.39 0.700 1.000 2 2014 2016
dbSNP: rs104894387
rs104894387
EDNRB ; EDNRB-AS1
3 0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05 0.010 1.000 1 1994 1994
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: rs10883866
rs10883866
NRG3
3 0.882 0.160 10 81883883 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11197571
rs11197571
GFRA1
1 1.000 0.080 10 116183122 intron variant A/G snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs11241200
rs11241200
MCC
1 1.000 0.080 5 113339402 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs117617821
rs117617821 		2 0.925 0.080 7 84692873 intergenic variant T/C snv 2.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs11766001
rs11766001
SEMA3A
1 1.000 0.080 7 84515886 intergenic variant A/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs11795613
rs11795613
NLGN3
2 0.925 0.120 X 71147478 intron variant A/G snv 0.010 1.000 1 2018 2018
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: rs12220534
rs12220534
RASGEF1A
1 1.000 0.080 10 43238858 intron variant T/G snv 0.16 0.700 1.000 1 2009 2009
dbSNP: rs12428625
rs12428625 		2 0.925 0.080 13 86134644 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12707682
rs12707682 		1 1.000 0.080 7 84814040 intergenic variant T/C snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs13017697
rs13017697
ZEB2
1 1.000 0.080 2 144399748 missense variant G/A;T snv 7.0E-06 0.010 1.000 1 2014 2014