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: rs2857656
rs2857656
5 0.851 0.120 17 34254988 upstream gene variant G/A;C snv 0.020 1.000 2 2014 2016
dbSNP: rs10065172
rs10065172
8 0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs11003125
rs11003125
7 0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs140920120
rs140920120
2 0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2019 2019
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
dbSNP: rs3917887
rs3917887
8 0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33 0.010 1.000 1 2016 2016