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: rs28936375
rs28936375
15 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2277460
rs2277460
3 0.882 0.200 14 35292367 5 prime UTR variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2295826
rs2295826
4 0.851 0.200 14 52708205 intron variant A/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs2295827
rs2295827
4 0.851 0.200 14 52708263 intron variant C/T snv 9.6E-02 9.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs2348071
rs2348071
5 0.827 0.240 14 58263908 intron variant A/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs4149584
rs4149584
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.010 1.000 1 2007 2007