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: rs1823068
rs1823068
2 5 59380223 intron variant A/G snv 0.15 0.700 1.000 1 2007 2007
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2006 2015
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12522161
rs12522161
1 5 60348958 intron variant T/C snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2018 2018
dbSNP: rs4751440
rs4751440
NPS
3 0.925 0.120 10 127552592 missense variant G/A;C snv 1.6E-05; 9.4E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs841
rs841
8 0.827 0.200 14 54843774 splice region variant G/A snv 0.22 0.22 0.010 1.000 1 2019 2019
dbSNP: rs934945
rs934945
10 0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 0.010 1.000 1 2019 2019