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: rs11241200
rs11241200
MCC
1 1.000 0.080 5 113339402 intron variant T/A;G snv 0.010 1.000 1 2018 2018
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: rs901425551
rs901425551
EDN1
1 1.000 0.080 6 12294313 missense variant T/C snv 0.010 1.000 1 1998 1998
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: rs4759753
rs4759753
RIMBP2
1 1.000 0.080 12 130680088 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
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: rs78301778
rs78301778
WNT8A
1 1.000 0.080 5 138087906 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs6596422
rs6596422
WNT8A
1 1.000 0.080 5 138090758 synonymous variant G/A snv 0.48 0.43 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: rs369759015
rs369759015
PCDHA9 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1 1.000 0.080 5 140849775 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2018 2018
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: rs34961586
rs34961586
ZEB2
1 1.000 0.080 2 144403925 synonymous variant C/G;T snv 5.8E-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: rs61730970
rs61730970
HHIP ; HHIP-AS1
2 1.000 0.080 4 144659714 missense variant G/A snv 5.4E-03 2.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs200798148
rs200798148
HHIP ; HHIP-AS1
2 1.000 0.080 4 144659723 missense variant C/T snv 8.5E-05 2.1E-05 0.010 1.000 1 2016 2016
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: 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: 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: 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: rs41292293
rs41292293
SLC9A3R2
1 1.000 0.080 16 2036965 synonymous variant G/A snv 8.1E-03 9.5E-03 0.010 1.000 1 2014 2014
dbSNP: rs200894751
rs200894751
ECE1
1 1.000 0.080 1 21225411 missense variant G/A snv 2.5E-04 1.7E-04 0.700 0
dbSNP: rs765763704
rs765763704
ECE1
1 1.000 0.080 1 21247317 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs192966556
rs192966556
WNT3A
1 1.000 0.080 1 228022684 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
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: rs3764070
rs3764070
LINC00327
1 1.000 0.080 13 23468930 intron variant G/A snv 0.19 0.700 1.000 1 2009 2009