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: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.070 0.857 7 2015 2020
dbSNP: rs3819024
rs3819024
17 0.701 0.560 6 52185988 upstream gene variant A/G snv 0.34 0.030 0.667 3 2015 2019
dbSNP: rs8193036
rs8193036
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.030 0.333 3 2015 2019
dbSNP: rs4711998
rs4711998
16 0.708 0.360 6 52185555 upstream gene variant A/G snv 0.64 0.020 < 0.001 2 2015 2017
dbSNP: rs8193037
rs8193037
12 0.752 0.320 6 52186311 upstream gene variant G/A;T snv 0.020 0.500 2 2015 2019
dbSNP: rs148704956
rs148704956
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs3819025
rs3819025
11 0.752 0.480 6 52186476 intron variant G/A snv 0.13 8.5E-02 0.010 < 0.001 1 2015 2015