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: 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 2005 2005
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 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 2005 2005
dbSNP: rs397507545
rs397507545
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2003 2006
dbSNP: rs80338796
rs80338796
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs12268840
rs12268840
6 0.827 0.200 10 129527035 intron variant C/T snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2009 2009
dbSNP: rs4149579
rs4149579
1 1.000 0.040 12 6338191 intron variant C/T snv 5.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs4855094
rs4855094
1 1.000 0.040 3 179160189 intron variant G/A snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs648802
rs648802
1 1.000 0.040 6 138092196 missense variant G/C;T snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs7644468
rs7644468
1 1.000 0.040 3 97291143 intron variant T/C snv 1.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs13337626
rs13337626
1 1.000 0.040 16 2075833 missense variant T/C;G snv 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs2295778
rs2295778
1 1.000 0.040 10 100536079 missense variant C/G snv 0.25 0.20 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs10852151
rs10852151
1 1.000 0.040 15 91540065 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs9257809
rs9257809
10 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs9936833
rs9936833
6 0.882 0.160 16 86369512 intergenic variant C/T snv 0.64 0.010 1.000 1 2017 2017
dbSNP: rs12465911
rs12465911
2 0.925 0.080 2 150929228 intergenic variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs13396805
rs13396805
2 0.925 0.080 2 150964998 intergenic variant C/T snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2341926
rs2341926
2 0.925 0.080 2 150927414 intergenic variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2971030
rs2971030
2 0.925 0.080 7 9966714 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs7141987
rs7141987
2 0.925 0.080 14 101025887 intron variant T/C snv 0.58 0.700 1.000 1 2018 2018