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: rs116799036
rs116799036
1 1.000 0.200 6 31381371 downstream gene variant G/A snv 0.030 1.000 3 2013 2015
dbSNP: rs12141431
rs12141431
1 1.000 0.200 1 67281340 downstream gene variant G/C snv 0.23 0.020 0.500 2 2017 2019
dbSNP: rs10094579
rs10094579
6 0.807 0.280 8 89837077 downstream gene variant C/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs12119179
rs12119179
2 0.925 0.200 1 67281732 downstream gene variant A/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1522596
rs1522596
1 1.000 0.200 7 150538695 downstream gene variant A/G snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs2517411
rs2517411
1 1.000 0.200 6 30992490 downstream gene variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs6845297
rs6845297
1 1.000 0.200 4 74393688 downstream gene variant G/A snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs76546355
rs76546355
2 0.925 0.200 6 31381371 downstream gene variant G/A snv 4.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs9380217
rs9380217
1 1.000 0.200 6 31083776 downstream gene variant C/T snv 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs11209032
rs11209032
10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.030 1.000 3 2010 2019
dbSNP: rs1234315
rs1234315
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs2542151
rs2542151
11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 < 0.001 1 2015 2015
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs7775759
rs7775759
6 0.925 0.200 6 31384669 upstream gene variant G/A snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs8193036
rs8193036
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs897200
rs897200
4 0.851 0.280 2 191153045 upstream gene variant T/C snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs9260997
rs9260997
1 1.000 0.200 6 29995539 upstream gene variant T/C snv 0.90 0.010 < 0.001 1 2015 2015
dbSNP: rs936551
rs936551
1 1.000 0.200 4 827702 upstream gene variant A/G snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs9471535
rs9471535
5 0.851 0.240 6 41287752 upstream gene variant T/C snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs17633132
rs17633132
1 1.000 0.200 8 17642610 splice region variant C/G;T snv 8.0E-06; 0.11 0.010 1.000 1 2013 2013
dbSNP: rs10454134
rs10454134
1 1.000 0.200 2 48420887 TF binding site variant G/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs943899383
rs943899383
F5
1 1.000 0.200 1 169586343 frameshift variant C/- delins 0.010 1.000 1 2010 2010
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.030 1.000 3 2014 2019
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2013 2013