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: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.100 0.921 38 1993 2019
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.100 0.952 21 1995 2019
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.060 1.000 6 2006 2019
dbSNP: rs1042711
rs1042711
5 0.827 0.120 5 148826785 5 prime UTR variant C/A;G;T snv 4.2E-06; 0.68 0.020 1.000 2 2016 2019
dbSNP: rs1042718
rs1042718
3 0.925 0.080 5 148827354 missense variant C/A;T snv 0.23; 4.0E-06 0.010 1.000 1 2013 2013