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: rs17723799
rs17723799
1 1.000 0.120 5 149427514 non coding transcript exon variant C/T snv 9.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs3733846
rs3733846
6 0.807 0.200 5 149425059 non coding transcript exon variant T/C snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs41291957
rs41291957
7 0.882 0.200 5 149428827 intron variant G/A snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs13306698
rs13306698
3 0.882 0.240 7 95311470 missense variant T/C snv 6.0E-03 1.9E-03 0.010 1.000 1 2018 2018
dbSNP: rs16941
rs16941
7 0.827 0.240 17 43092418 missense variant T/C;G snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs1799931
rs1799931
14 0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 0.500 2 2017 2017
dbSNP: rs10165970
rs10165970
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10519097
rs10519097
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs11943456
rs11943456
18 0.708 0.320 4 55410167 intron variant T/C snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800893
rs1800893
1 1.000 0.120 1 206773822 intron variant C/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs2071286
rs2071286
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs207186
rs207186
2 0.925 0.120 1 55359252 intron variant C/T snv 7.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs3749474
rs3749474
17 0.724 0.320 4 55434518 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs4149056
rs4149056
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs895520
rs895520
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs9461776
rs9461776
11 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 0.010 1.000 1 2017 2017
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 2015 2015
dbSNP: rs1163350491
rs1163350491
OCM
1 1.000 0.120 7 5880922 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1185926926
rs1185926926
1 1.000 0.120 21 45531748 missense variant A/G snv 4.1E-06 0.010 1.000 1 2015 2015