Source: CURATED ×
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: rs3824662
rs3824662
GATA3
2 0.752 0.320 10 8062245 intron variant C/A;T snv 0.800 1.000 2 2013 2015
dbSNP: rs540476365
rs540476365
SETD2
1 1.000 0.120 3 47121125 missense variant T/C snv 0.700 1.000 2 2014 2014
dbSNP: rs780963440
rs780963440
SETD2
1 1.000 0.120 3 47123960 missense variant G/A;C snv 5.0E-05; 1.3E-05 0.700 1.000 2 2014 2014
dbSNP: rs10261922
rs10261922 		1 1.000 0.120 7 50414314 intergenic variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10899736
rs10899736
DDC ; FIGNL1
1 1.000 0.120 7 50479227 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1110701
rs1110701 		1 1.000 0.120 7 50410929 intergenic variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs112141546
rs112141546
ADAMTS18
1 1.000 0.120 16 77367618 missense variant C/A;G;T snv 4.0E-06; 1.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs1142345
rs1142345
TPMT
1 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs11575387
rs11575387
DDC ; FIGNL1
1 1.000 0.120 7 50499737 intron variant T/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs12540874
rs12540874
GRB10
2 0.882 0.280 7 50597225 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs17079534
rs17079534 		1 1.000 0.120 3 39805581 upstream gene variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs1945213
rs1945213 		1 1.000 0.120 11 56408195 upstream gene variant C/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs2069426
rs2069426
CDKN2B ; CDKN2B-AS1
1 1.000 0.120 9 22006274 intron variant G/A;C;T snv 4.4E-06; 4.4E-06; 7.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs207954
rs207954
SLCO3A1
1 1.000 0.120 15 92114143 intron variant T/A;C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs2622849
rs2622849
COL11A1
1 1.000 0.120 1 102955788 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs343604
rs343604
LOC107985174
1 1.000 0.120 1 110716148 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs3823674
rs3823674
DDC ; FIGNL1
1 1.000 0.120 7 50504298 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs4266962
rs4266962 		1 1.000 0.120 10 22052645 intergenic variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs4463516
rs4463516 		3 1.000 0.120 9 32867483 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs45461499
rs45461499
CDC20 ; ELOVL1
1 1.000 0.120 1 43363065 missense variant G/A;T snv 6.1E-04; 1.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs4748813
rs4748813
PIP4K2A
1 1.000 0.120 10 22557806 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs4896310
rs4896310
LOC105378021
3 1.000 0.120 6 138018697 intergenic variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs60086424
rs60086424
LOC730100
1 1.000 0.120 2 52162981 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6944602
rs6944602 		1 0.925 0.120 7 50406053 downstream gene variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs7156960
rs7156960
GPATCH2L ; LOC105370575
1 1.000 0.120 14 76237008 intron variant C/G;T snv 0.800 1.000 1 2012 2012