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: rs10046257
rs10046257 		1 1.000 0.040 6 32886920 regulatory region variant G/A snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs10214886
rs10214886 		1 1.000 0.040 6 32889642 intergenic variant T/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs1029295
rs1029295 		1 1.000 0.040 6 32888705 intergenic variant T/C snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs1029296
rs1029296 		1 1.000 0.040 6 32888604 intergenic variant T/C snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs11969002
rs11969002 		1 1.000 0.040 6 32891971 upstream gene variant G/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs1245582
rs1245582 		1 1.000 0.040 10 72018509 downstream gene variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs17034687
rs17034687 		1 1.000 0.040 3 3638168 intergenic variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs2187689
rs2187689 		1 1.000 0.040 6 32884870 intergenic variant T/C snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs6457690
rs6457690 		1 1.000 0.040 6 32887940 intergenic variant G/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs6936004
rs6936004 		1 1.000 0.040 6 32889157 intergenic variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs7744666
rs7744666 		1 1.000 0.040 6 32891935 upstream gene variant T/C snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs7975253
rs7975253
ANAPC5
1 1.000 0.040 12 121375864 intron variant C/T snv 6.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2073711
rs2073711
CILP
7 0.807 0.160 15 65201874 missense variant A/G snv 0.56 0.61 0.020 1.000 2 2011 2016
dbSNP: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1793953
rs1793953
COL2A1
2 0.925 0.080 12 47999743 non coding transcript exon variant G/A snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1793937
rs1793937
COL2A1 ; LOC105369752
1 1.000 0.040 12 47981692 intron variant C/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs2276454
rs2276454
COL2A1 ; LOC105369752
2 0.925 0.040 12 47982508 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2017 2017
dbSNP: rs4633
rs4633
COMT ; MIR4761
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012
dbSNP: rs4875102
rs4875102
CSMD1
1 1.000 0.040 8 4427170 intron variant G/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs5030772
rs5030772
FASLG
7 0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs763110
rs763110
FASLG
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs11076008
rs11076008
FTO
2 0.925 0.120 16 53893411 intron variant G/A;C snv 0.010 1.000 1 2013 2013