Source: ALL
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: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.070 1.000 7 2010 2018
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2009 2009
dbSNP: rs143894582
rs143894582
3 1.000 0.080 12 112469070 intron variant A/-;AA delins 0.010 1.000 1 2018 2018
dbSNP: rs149212747
rs149212747
2 1.000 0.080 12 111398968 intron variant C/-;CC;CCC delins 0.010 1.000 1 2018 2018
dbSNP: rs1549637
rs1549637
3 0.925 0.120 19 48048700 intron variant A/T snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs2279238
rs2279238
11 0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26 0.010 1.000 1 2015 2015
dbSNP: rs35385902
rs35385902
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.010 1.000 1 2009 2009
dbSNP: rs4375
rs4375
3 0.925 0.080 22 38143034 non coding transcript exon variant T/C snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs940553638
rs940553638
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2009 2009