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: rs7521902
rs7521902
LOC105376850
4 1.000 0.040 1 22164231 intergenic variant C/A snv 0.22 0.850 1.000 7 2012 2017
dbSNP: rs16826658
rs16826658
LOC105376850
1 1.000 0.040 1 22159378 downstream gene variant T/G snv 0.32 0.750 1.000 6 2010 2020
dbSNP: rs2235529
rs2235529
WNT4
3 1.000 0.040 1 22123994 intron variant C/T snv 0.13 0.820 1.000 3 2013 2020
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2019
dbSNP: rs3820282
rs3820282
WNT4 ; LOC105376845
2 0.925 0.120 1 22141722 intron variant C/T snv 0.13 0.030 1.000 3 2015 2019
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.020 1.000 2 2012 2013
dbSNP: rs1037189404
rs1037189404
MUC1
8 0.776 0.280 1 155187519 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs10917151
rs10917151
CDC42
3 0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs12030576
rs12030576 		2 1.000 0.040 1 115274600 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12037376
rs12037376
WNT4
3 0.925 0.040 1 22135618 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2011 2011
dbSNP: rs200922190
rs200922190
CDC73
1 1.000 0.040 1 193234361 intron variant -/ATAATT delins 0.16 0.700 1.000 1 2017 2017
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3024496
rs3024496
IL10
6 0.827 0.200 1 206768519 3 prime UTR variant A/G snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs3820445
rs3820445
BEND5 ; AGBL4
1 1.000 0.040 1 48758912 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs3920498
rs3920498
LOC105376850
2 1.000 0.040 1 22166394 intergenic variant G/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs4654783
rs4654783 		1 1.000 0.040 1 22113027 downstream gene variant T/C snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs55938609
rs55938609
WNT4 ; LOC105376845
1 1.000 0.040 1 22143958 5 prime UTR variant G/C snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs7515106
rs7515106
LOC105376845
1 1.000 0.040 1 22146917 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs766333007
rs766333007
MUC1
8 0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs777161444
rs777161444
ARNT
1 1.000 0.040 1 150817123 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs9434741
rs9434741
CHD5
1 1.000 0.040 1 6157799 intron variant A/G snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs13394619
rs13394619
GREB1
1 1.000 0.040 2 11587381 splice acceptor variant G/A snv 0.53 0.61 0.840 1.000 4 2012 2015
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.040 1.000 4 2011 2018