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: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.100 0.882 17 1997 2018
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.100 0.786 14 2000 2017
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 < 0.001 1 2012 2012
dbSNP: rs201777403
rs201777403
2 0.925 0.120 5 148827105 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs34623097
rs34623097
1 1.000 0.080 5 148825046 upstream gene variant G/A;C snv 0.010 1.000 1 2013 2013