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: 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: rs104894389
rs104894389
EDNRB ; EDNRB-AS1
2 0.925 0.080 13 77901185 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 1997 1997
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: rs11241200
rs11241200
MCC
1 1.000 0.080 5 113339402 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs112618428
rs112618428
EDNRB ; EDNRB-AS1
1 1.000 0.080 13 77903255 synonymous variant G/A snv 8.0E-06 5.6E-05 0.010 1.000 1 2007 2007
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: 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: 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
dbSNP: rs13223150
rs13223150
TSGA13
2 0.925 0.080 7 130684771 intron variant A/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1365019464
rs1365019464
POLR2F ; SOX10
1 1.000 0.080 22 37974187 missense variant C/T snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs139392904
rs139392904
NTRK3
1 1.000 0.080 15 87929391 missense variant G/A snv 8.0E-04 5.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs1421589
rs1421589
NRXN1
1 1.000 0.080 2 50063015 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs14242
rs14242
VAMP5 ; RNF181
1 1.000 0.080 2 85593289 3 prime UTR variant C/T snv 8.3E-02 0.010 1.000 1 2018 2018
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: rs145882986
rs145882986
WNT3A
1 1.000 0.080 1 228050906 synonymous variant C/T snv 6.7E-04 5.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs146535482
rs146535482
HHIP ; HHIP-AS1
2 1.000 0.080 4 144658851 missense variant G/C snv 1.1E-03 3.9E-03 0.010 < 0.001 1 2016 2016
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: rs151128145
rs151128145
DNMT3B
1 1.000 0.080 20 32780396 missense variant G/A snv 7.7E-04 7.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs1583147
rs1583147 		1 1.000 0.080 7 84841891 regulatory region variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs17059206
rs17059206
FZD3
1 1.000 0.080 8 28554946 intron variant A/T snv 1.8E-02 0.010 1.000 1 2016 2016
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