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: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.100 0.880 25 2007 2019
dbSNP: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.050 0.800 5 2005 2009
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: rs12885713
rs12885713
CALM1
5 0.827 0.200 14 90397013 intron variant C/A;G;T snv 0.030 0.333 3 2008 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 2003 2018
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.030 1.000 3 2013 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.030 1.000 3 2008 2014
dbSNP: rs226794
rs226794
ADAMTS5
3 0.882 0.160 21 26930036 missense variant A/G snv 0.83 0.89 0.030 0.667 3 2008 2019
dbSNP: rs288326
rs288326
FRZB
9 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 0.030 0.667 3 2005 2009
dbSNP: rs3740199
rs3740199
ADAM12
3 0.882 0.120 10 126330456 missense variant C/A;G snv 2.1E-03; 0.56 0.030 1.000 3 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: rs7639618
rs7639618
COL6A4P1
3 0.882 0.080 3 15174922 non coding transcript exon variant C/T snv 0.22 0.18 0.030 0.667 3 2009 2016
dbSNP: rs8044769
rs8044769
FTO
6 0.851 0.200 16 53805223 intron variant T/A;C;G snv 0.030 0.667 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: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.020 1.000 2 2012 2014
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: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2006 2007
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2000 2015
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.020 1.000 2 2008 2015
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.020 1.000 2 2008 2010