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: rs2506030
rs2506030 		1 1.000 0.080 10 42952399 intergenic variant A/G snv 0.35 0.030 1.000 3 2015 2019
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: 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: 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: 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: 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: 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: 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: 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: rs1864403
rs1864403
RET
1 1.000 0.080 10 43109502 intron variant A/G snv 0.79 0.700 1.000 1 2009 2009
dbSNP: rs1864410
rs1864410
RET
1 1.000 0.080 10 43080177 intron variant T/G snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs1879310
rs1879310
RASGEF1A
1 1.000 0.080 10 43239327 intron variant T/C snv 0.16 0.700 1.000 1 2009 2009
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: rs199881560
rs199881560
PSPN ; ALKBH7
1 1.000 0.080 19 6375494 missense variant G/A snv 1.3E-03 9.2E-04 0.010 1.000 1 2011 2011
dbSNP: rs2054675
rs2054675
CYP2B6
1 1.000 0.080 19 40989850 upstream gene variant T/C snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs2191026
rs2191026
SLC6A20
1 1.000 0.080 3 45767003 intron variant C/A;T snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs2236405
rs2236405
PTCH1
1 1.000 0.080 9 95449290 missense variant T/A snv 3.4E-02 4.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs2304678
rs2304678
PREB ; ABHD1
1 1.000 0.080 2 27130639 stop gained G/A;C snv 4.0E-06; 0.17 0.700 1.000 1 2009 2009