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: rs9282834
rs9282834
RET
3 0.882 0.080 10 43111408 missense variant G/A snv 2.3E-03 6.6E-04 0.710 1.000 1 2016 2016
dbSNP: rs901425551
rs901425551
EDN1
1 1.000 0.080 6 12294313 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs895453885
rs895453885
GFRA4
1 1.000 0.080 20 3660897 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs868107957
rs868107957
EDN3
1 1.000 0.080 20 59301574 missense variant G/A snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs8134637
rs8134637 		1 1.000 0.080 21 19758015 downstream gene variant T/C snv 3.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs8024894
rs8024894
NOX5
1 1.000 0.080 15 69055925 intron variant T/C snv 9.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs80227144
rs80227144 		2 0.925 0.080 7 84720526 regulatory region variant C/A snv 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs80068543
rs80068543
ARVCF
1 1.000 0.080 22 19981520 missense variant C/T snv 2.6E-02 2.4E-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: rs797821
rs797821
SEMA3A
1 1.000 0.080 7 83961536 synonymous variant T/C snv 0.62 0.58 0.010 1.000 1 2012 2012
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: rs7834206
rs7834206
NRG1
1 1.000 0.080 8 32548630 5 prime UTR variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs78301778
rs78301778
WNT8A
1 1.000 0.080 5 138087906 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs781987951
rs781987951
PCDHA9 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1 1.000 0.080 5 140849774 frameshift variant -/TA ins 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs781362020
rs781362020
RET
1 1.000 0.080 10 43109108 missense variant T/C snv 2.8E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs7804122
rs7804122
SEMA3A
2 0.925 0.120 7 84005397 synonymous variant A/G snv 0.24 0.24 0.010 1.000 1 2012 2012
dbSNP: rs780355308
rs780355308
EDNRB
1 1.000 0.080 13 77918263 missense variant T/A;C snv 2.4E-05 0.010 1.000 1 1998 1998
dbSNP: rs779996040
rs779996040
RET
1 1.000 0.080 10 43119575 missense variant C/T snv 8.3E-06 0.700 0
dbSNP: rs7785360
rs7785360
AUTS2
3 0.925 0.120 7 69944392 intron variant G/A snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs77743549
rs77743549
INMT ; INMT-MINDY4
1 1.000 0.080 7 30752287 missense variant A/C snv 7.6E-03 6.2E-03 0.010 1.000 1 2015 2015
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: 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: 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: 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: rs76764689
rs76764689
RET
2 0.925 0.080 10 43100480 missense variant C/T snv 0.700 0