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: rs12901499
rs12901499
SMAD3
3 0.882 0.040 15 67078107 intron variant G/A snv 0.45 0.040 1.000 4 2018 2018
dbSNP: rs1871054
rs1871054
ADAM12
3 0.925 0.040 10 126093840 intron variant C/A;T snv 0.040 0.750 4 2009 2017
dbSNP: rs6094710
rs6094710 		1 1.000 0.040 20 47466905 intergenic variant G/A snv 5.0E-02 0.720 1.000 3 2014 2018
dbSNP: rs10492367
rs10492367 		3 0.882 0.040 12 27862037 regulatory region variant G/T snv 0.12 0.710 1.000 2 2012 2018
dbSNP: rs10947262
rs10947262
BTNL2 ; TSBP1-AS1
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.020 0.500 2 2010 2011
dbSNP: rs10980705
rs10980705
LPAR1
1 1.000 0.040 9 111040905 upstream gene variant C/T snv 0.18 0.020 0.500 2 2008 2009
dbSNP: rs11842874
rs11842874
MCF2L
1 1.000 0.040 13 113040195 intron variant A/G snv 0.12 0.810 1.000 2 2011 2015
dbSNP: rs12982744
rs12982744
DOT1L
4 0.925 0.040 19 2177194 intron variant C/A;G;T snv 0.810 1.000 2 2012 2018
dbSNP: rs2820436
rs2820436
LYPLAL1-AS1
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs2830585
rs2830585
ADAMTS5
2 1.000 0.040 21 26932893 missense variant C/T snv 0.12 0.12 0.020 0.500 2 2016 2019
dbSNP: rs3771501
rs3771501
TGFA
2 0.925 0.040 2 70490521 intron variant A/G snv 0.60 0.700 1.000 2 2018 2019
dbSNP: rs715572
rs715572
TIMP3 ; SYN3
3 0.925 0.040 22 32838944 intron variant G/A snv 0.18 0.020 1.000 2 2015 2017
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: 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: rs1032128
rs1032128
TNFRSF11B
1 1.000 0.040 8 118939534 intron variant G/A snv 0.30 0.010 < 0.001 1 2019 2019
dbSNP: rs1034762
rs1034762
COL2A1
1 1.000 0.040 12 47995860 intron variant A/C snv 0.74 0.79 0.700 1.000 1 2012 2012
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: rs1042667
rs1042667
SOX9 ; SOX9-AS1
3 1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1044122
rs1044122
ADAM12
2 0.925 0.040 10 126036209 synonymous variant A/G snv 0.27 0.26 0.010 1.000 1 2017 2017
dbSNP: rs10502437
rs10502437
TMEM241
1 1.000 0.040 18 23390742 intron variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs1052981
rs1052981
SFRP4 ; EPDR1
1 1.000 0.040 7 37906899 3 prime UTR variant G/A snv 0.70 0.010 < 0.001 1 2013 2013
dbSNP: rs1062033
rs1062033
CYP19A1 ; MIR4713HG
1 1.000 0.040 15 51255741 5 prime UTR variant C/G snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs10654220
rs10654220
MPHOSPH9
2 1.000 0.040 12 123218875 intron variant -/TGT;TGTTGT delins 0.700 1.000 1 2019 2019
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: rs10948155
rs10948155 		1 1.000 0.040 6 44720220 intergenic variant T/C snv 0.30 0.700 1.000 1 2012 2012