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: rs3811047
rs3811047
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.020 0.500 2 2016 2017
dbSNP: rs2723176
rs2723176
4 0.851 0.200 2 112914932 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs2723186
rs2723186
2 0.925 0.160 2 112917503 intron variant A/G;T snv 0.91 0.010 < 0.001 1 2016 2016
dbSNP: rs2723187
rs2723187
2 1.000 0.040 2 112917692 missense variant C/T snv 6.8E-02 1.0E-01 0.010 < 0.001 1 2016 2016