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: rs2095019
rs2095019
LINC01615
1 1.000 0.040 6 169164779 upstream gene variant A/C snv 0.76 0.010 1.000 1 2014 2014
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: 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: 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: 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: 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: 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: rs422342
rs422342
LOC102723493
1 1.000 0.040 15 67055348 intron variant A/G snv 0.13 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: rs4076018
rs4076018
NGF ; NGF-AS1
1 1.000 0.040 1 115300189 intron variant A/T snv 0.25 0.010 1.000 1 2013 2013
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: 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: rs470859
rs470859
GLT1D1
1 1.000 0.040 12 128912087 intron variant C/A;T snv 0.010 1.000 1 2014 2014
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: 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: 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: 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: 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: 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: rs926849
rs926849
PRKN
1 1.000 0.040 6 161740587 intron variant C/T snv 0.67 0.800 1.000 1 2013 2013
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: 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: 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