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: rs1199160400
rs1199160400
1 1.000 10 45463529 missense variant C/G snv 6.7E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1414488811
rs1414488811
1 1.000 10 45463529 frameshift variant C/-;CC delins 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1010273
rs1010273
3 0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs2596542
rs2596542
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs9275319
rs9275319
6 0.807 0.200 6 32698518 intergenic variant A/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.020 1.000 2 2013 2014
dbSNP: rs9275572
rs9275572
15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 1.000 2 2013 2016