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: rs2106261
rs2106261
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.010 1.000 1 2019 2019
dbSNP: rs10033464
rs10033464
8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.010 1.000 1 2019 2019
dbSNP: rs886037834
rs886037834
6 0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs16899974
rs16899974
5 0.827 0.120 5 34998772 missense variant C/A snv 0.24 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1273246817
rs1273246817
3 0.882 0.080 1 237784169 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs372827955
rs372827955
2 1.000 0.080 12 114356026 missense variant G/A snv 4.4E-05 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs1011490341
rs1011490341
1 1.000 0.080 7 120741596 missense variant C/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2018 2018