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: rs10218792
rs10218792
KIF26B
1 1.000 0.040 1 245587630 intron variant T/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2006 2006
dbSNP: rs11965969
rs11965969
COL10A1 ; NT5DC1
1 1.000 0.040 6 116131040 intron variant T/G snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs2289263
rs2289263
SMAD3
3 0.925 0.120 15 67146869 intron variant T/G snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs2353525
rs2353525
BCL9
1 1.000 0.040 1 147597199 intron variant T/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs3117582
rs3117582
BAG6 ; APOM
14 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs4931462
rs4931462 		1 1.000 0.040 12 31225008 TF binding site variant T/G snv 0.65 0.700 1.000 1 2012 2012
dbSNP: rs62435999
rs62435999
LOC101929770
1 1.000 0.040 6 44727536 upstream gene variant T/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs6766414
rs6766414 		1 1.000 0.040 3 31446730 intergenic variant T/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs945006
rs945006
DIO3
1 1.000 0.040 14 101562940 3 prime UTR variant T/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs10401670
rs10401670
MCEMP1
1 1.000 0.040 19 7677916 intron variant T/C;G snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs10795550
rs10795550
ITIH5
1 1.000 0.040 10 7562392 3 prime UTR variant T/C;G snv 0.88 0.010 1.000 1 2019 2019
dbSNP: rs1355782
rs1355782
CPNE4
1 1.000 0.040 3 131768822 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1940475
rs1940475
MMP8
4 1.000 0.040 11 102722517 missense variant T/C;G snv 0.54 0.010 < 0.001 1 2016 2016
dbSNP: rs2622873
rs2622873
COL11A1
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4362
rs4362
ACE
9 0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 0.010 1.000 1 2015 2015
dbSNP: rs7135617
rs7135617
ORAI1
5 0.827 0.240 12 121631099 intron variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs798726
rs798726
FAM53A
1 1.000 0.040 4 1683484 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2010 2015
dbSNP: rs7775228
rs7775228 		7 0.790 0.360 6 32690302 TF binding site variant T/C snv 0.15 0.020 0.500 2 2010 2011
dbSNP: rs10172410
rs10172410
ITGA4
1 1.000 0.040 2 181487841 intron variant T/C snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs10948155
rs10948155 		1 1.000 0.040 6 44720220 intergenic variant T/C snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs1127379
rs1127379
SFRP1
3 0.882 0.120 8 41263761 3 prime UTR variant T/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs115740542
rs115740542
H2AC6 ; H2BC4
2 0.925 0.040 6 26123274 intron variant T/C snv 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs12901404
rs12901404
RYR3
1 1.000 0.040 15 33783099 intron variant T/C snv 0.16 0.700 1.000 1 2009 2009