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: rs1501899
rs1501899
CASR
8 0.790 0.240 3 122188481 intron variant A/G snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs1057520018
rs1057520018
STK11
6 0.807 0.080 19 1223124 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs59912467
rs59912467
STK11
7 0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs780294601
rs780294601
PPARG
4 0.851 0.080 3 12416967 missense variant G/C snv 4.4E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs430397
rs430397
HSPA5
9 0.763 0.240 9 125238840 intron variant C/T snv 9.1E-02 0.11 0.010 1.000 1 2017 2017
dbSNP: rs391957
rs391957
HSPA5 ; LOC107987127
10 0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1415224147
rs1415224147
MAPKAP1
3 0.882 0.080 9 125585715 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs34330
rs34330
CDKN1B ; GPR19
15 0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs11103603
rs11103603 		4 0.851 0.080 9 134449754 TF binding site variant T/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs2276466
rs2276466
ERCC4
15 0.732 0.320 16 13949318 3 prime UTR variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2229090
rs2229090
XPC
6 0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 0.010 1.000 1 2016 2016
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1301478248
rs1301478248
CASP9
3 0.882 0.080 1 15495395 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs6336
rs6336
NTRK1
5 0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs6441201
rs6441201
RSRC1
3 0.882 0.080 3 158460535 intron variant G/A snv 0.51 0.020 1.000 2 2017 2018
dbSNP: rs13034994
rs13034994
MYCNOS
3 0.882 0.080 2 15938513 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs9653226
rs9653226
MYCN ; MYCNOS
3 0.882 0.080 2 15939632 intron variant C/T snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs57961569
rs57961569
MYCN ; MYCNOS
5 0.827 0.200 2 15939643 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs60226897
rs60226897
MYCN
3 0.882 0.080 2 15947252 downstream gene variant G/A snv 4.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs4987023
rs4987023
SOD2
6 0.807 0.120 6 159692661 missense variant C/T snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs45511401
rs45511401
ABCC1
4 0.851 0.120 16 16079375 missense variant G/T snv 3.8E-02 3.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs1027702
rs1027702 		3 0.882 0.080 1 161743067 intergenic variant C/T snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs1438259227
rs1438259227
PRKN
5 0.827 0.080 6 162443428 missense variant T/A snv 7.0E-06 0.010 1.000 1 2017 2017