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: 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: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2011 2017
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2017 2019
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 0.010 1.000 1 2011 2011
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2017 2018
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2013 2013
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 2011 2017
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: 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: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 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: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.010 1.000 1 2018 2018
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: 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: 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: rs77245812
rs77245812
MATN3 ; LOC101928222
3 0.882 0.040 2 20003169 missense variant G/A snv 1.5E-02 1.2E-02 0.010 1.000 1 2006 2006
dbSNP: rs11076008
rs11076008
FTO
2 0.925 0.120 16 53893411 intron variant G/A;C snv 0.010 1.000 1 2013 2013
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: rs201621853
rs201621853
IGFBP6
2 0.925 0.040 12 53100807 missense variant T/C snv 1.2E-05 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: 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