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: rs2206593
rs2206593
3 0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95 0.010 1.000 1 2015 2015
dbSNP: rs6746030
rs6746030
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.040 1.000 4 2010 2018
dbSNP: rs2070995
rs2070995
2 1.000 0.040 21 37714662 synonymous variant T/C snv 0.80 0.85 0.010 1.000 1 2019 2019
dbSNP: rs2562456
rs2562456
2 1.000 0.040 19 21483408 non coding transcript exon variant C/T snv 0.77 0.800 1.000 1 2009 2009
dbSNP: rs887200
rs887200
1 22 19976143 intron variant C/T snv 0.74 0.010 1.000 1 2013 2013
dbSNP: rs1571138
rs1571138
1 1 46429969 upstream gene variant A/G snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2013 2013
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs6801957
rs6801957
7 1.000 0.080 3 38725824 intron variant T/C snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs179971
rs179971
1 6 16362511 intron variant C/T snv 0.66 0.010 1.000 1 2017 2017
dbSNP: rs4660928
rs4660928
1 1 46420268 TF binding site variant A/C snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs9524885
rs9524885
2 13 95283335 intron variant T/C snv 0.63 0.010 1.000 1 2012 2012
dbSNP: rs4587017
rs4587017
1 4 69081680 intron variant T/G snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 < 0.001 1 2016 2016
dbSNP: rs2053044
rs2053044
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs6275
rs6275
7 0.851 0.160 11 113412755 synonymous variant A/G snv 0.64 0.58 0.010 1.000 1 2012 2012
dbSNP: rs7439366
rs7439366
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.020 1.000 2 2018 2018
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.030 1.000 3 2010 2020
dbSNP: rs8136867
rs8136867
4 0.882 0.080 22 21850504 intron variant G/A snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 1.000 2 2009 2014
dbSNP: rs6276
rs6276
8 0.807 0.320 11 113410675 3 prime UTR variant C/T snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs2756109
rs2756109
1 10 99798989 intron variant G/T snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs398655
rs398655
1 13 33013514 upstream gene variant A/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs7718461
rs7718461
1 5 76962223 intron variant A/G snv 0.51 0.010 1.000 1 2016 2016
dbSNP: rs2069718
rs2069718
14 0.742 0.320 12 68156382 intron variant A/G;T snv 0.50 0.010 1.000 1 2017 2017