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: 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: 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: 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: 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: 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: rs16924573
rs16924573
KIAA1217
1 1.000 0.040 10 24315964 intron variant G/A snv 8.8E-02 0.010 1.000 1 2011 2011
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: 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: 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: rs11076008
rs11076008
FTO
2 0.925 0.120 16 53893411 intron variant G/A;C snv 0.010 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: 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: rs2187689
rs2187689 		1 1.000 0.040 6 32884870 intergenic variant T/C snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs2292657
rs2292657
GLI1
1 1.000 0.040 12 57466149 intron variant G/A snv 0.48 0.010 1.000 1 2013 2013
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: 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: rs4875102
rs4875102
CSMD1
1 1.000 0.040 8 4427170 intron variant G/A;T snv 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