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: rs12885713
rs12885713
CALM1
5 0.827 0.200 14 90397013 intron variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs5871
rs5871
CALM1
2 0.925 0.200 14 90405134 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2009 2009
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2010 2010
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2010 2010
dbSNP: rs10510181
rs10510181
CHL1-AS2
4 0.882 0.200 3 149364 intron variant G/A snv 0.31 0.710 1.000 2 2011 2014
dbSNP: rs11190870
rs11190870 		6 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.850 1.000 9 2012 2019
dbSNP: rs708567
rs708567
IL17RC
6 0.807 0.200 3 9918386 missense variant C/T snv 0.46 0.51 0.010 1.000 1 2012 2012
dbSNP: rs6570507
rs6570507
ADGRG6
13 0.827 0.240 6 142358435 intron variant G/A snv 0.47 0.810 1.000 3 2013 2018
dbSNP: rs12946942
rs12946942 		4 0.882 0.200 17 71240857 intergenic variant G/T snv 7.5E-02 0.810 1.000 2 2013 2019
dbSNP: rs11598564
rs11598564 		3 0.925 0.200 10 101204847 intergenic variant G/A snv 0.45 0.700 1.000 1 2013 2013
dbSNP: rs625039
rs625039
LBX1-AS1
3 0.925 0.200 10 101233892 intron variant G/A snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs9496346
rs9496346
ADGRG6
4 1.000 0.040 6 142348201 intron variant A/G snv 0.42 0.700 1.000 1 2013 2013
dbSNP: rs1149048
rs1149048
MATN1-AS1
3 0.925 0.200 1 30725886 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs13398147
rs13398147 		2 0.925 0.040 2 221895559 intergenic variant C/T snv 0.19 0.700 1.000 2 2015 2017
dbSNP: rs241215
rs241215 		2 0.925 0.040 1 4544044 intergenic variant T/A snv 0.50 0.700 1.000 2 2015 2017
dbSNP: rs4940576
rs4940576
BCL2
2 0.925 0.040 18 63181406 intron variant T/A;C snv 0.700 1.000 2 2015 2017
dbSNP: rs678741
rs678741
LBX1-AS1
4 0.851 0.200 10 101237824 intron variant G/A snv 0.51 0.700 1.000 2 2015 2017
dbSNP: rs10830963
rs10830963
MTNR1B
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs3904778
rs3904778
BNC2
3 0.882 0.200 9 16681995 intron variant C/G snv 0.62 0.700 1.000 1 2015 2015
dbSNP: rs4637667
rs4637667 		2 0.925 0.040 6 142472884 regulatory region variant C/A snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs4753426
rs4753426
MTNR1B
6 0.827 0.280 11 92968430 upstream gene variant T/C snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs6137473
rs6137473 		5 0.827 0.280 20 21904055 intergenic variant G/A snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs1204870496
rs1204870496
TP63
2 0.925 0.200 3 189789839 missense variant T/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1815739
rs1815739
ACTN3
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2016 2016