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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs11969002
rs11969002 		1 1.000 0.040 6 32891971 upstream gene variant G/A;T snv 0.800 1.000 1 2013 2013
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: rs3749982
rs3749982
LOC100294145
1 1.000 0.040 6 32894830 upstream gene variant T/A;G snv 0.800 1.000 1 2013 2013
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: 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: rs9469300
rs9469300
LOC100294145
1 1.000 0.040 6 32892975 upstream gene variant G/A snv 0.13 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