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: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.020 1.000 2 2008 2013
dbSNP: rs1042713
rs1042713
38 0.622 0.571 5 148826877 missense variant G/A snp 0.42 0.43 0.010 1.000 1 2000 2000
dbSNP: rs1042714
rs1042714
38 0.634 0.464 5 148826910 stop gained G/C,T snp 0.68 0.67 0.010 1.000 1 2000 2000
dbSNP: rs112228717
rs112228717
3 0.878 0.107 16 27363336 missense variant C/T snp 0.010 1.000 1 2002 2002
dbSNP: rs113193886
rs113193886
38 0.608 0.464 7 143267671 missense variant A/T snp 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2280090
rs2280090
2 0.923 0.071 20 3669558 missense variant G/A snp 0.13 0.15 0.010 1.000 1 2009 2009
dbSNP: rs3918396
rs3918396
2 0.923 0.071 20 3671118 missense variant C/T snp 5.1E-05; 7.6E-02 3.2E-05; 6.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs4950928
rs4950928
21 0.679 0.464 1 203186754 regulatory region variant G/A,C,T snp 0.75 0.010 1.000 1 2009 2009
dbSNP: rs528557
rs528557
4 0.878 0.071 20 3671095 synonymous variant C/A,G snp 4.7E-06; 0.29 0.39 0.010 1.000 1 2009 2009