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: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1276300653
rs1276300653
2 0.925 0.120 3 9757072 missense variant T/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs138147246
rs138147246
2 0.925 0.120 3 9756551 synonymous variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs139632793
rs139632793
2 0.925 0.120 3 9751114 missense variant G/C snv 5.2E-05 1.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs145574072
rs145574072
2 0.925 0.120 3 9754765 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs149243735
rs149243735
2 0.925 0.120 3 9751076 missense variant C/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs56053615
rs56053615
4 0.851 0.120 3 9751845 missense variant G/A;T snv 3.4E-04; 4.0E-06 0.010 1.000 1 2014 2014