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: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
dbSNP: rs201436651
rs201436651
2 0.925 0.120 2 113241577 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs4986984
rs4986984
5 0.882 0.080 3 37012071 missense variant C/A;T snv 3.7E-04 0.010 1.000 1 2001 2001
dbSNP: rs577715207
rs577715207
8 0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs758272654
rs758272654
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2014 2014
dbSNP: rs9642880
rs9642880
9 0.776 0.240 8 127705823 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs967815855
rs967815855
3 0.882 0.120 17 39723607 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.020 1.000 2 2014 2015
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2014 2015