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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2004 2004
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2004 2004
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2004 2004
dbSNP: rs2268578
rs2268578
LUM
3 0.882 0.080 12 91107421 intron variant A/G snv 0.71 0.010 1.000 1 2008 2008
dbSNP: rs6905370
rs6905370
2 0.925 6 152005062 intron variant G/A snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs13387042
rs13387042
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs12443621
rs12443621
6 0.807 0.120 16 52514125 intron variant A/G snv 0.48 0.010 1.000 1 2010 2010
dbSNP: rs741581
rs741581
1 1.000 5 149823222 intron variant G/A snv 6.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs7874234
rs7874234
3 0.882 0.040 9 132937614 intron variant C/T snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs10771399
rs10771399
5 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1292011
rs1292011
4 0.851 0.080 12 115398717 regulatory region variant A/G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs16917302
rs16917302
5 0.851 0.080 10 62501439 intron variant A/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs2823093
rs2823093
3 0.882 0.080 21 15148511 intergenic variant G/A snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs8170
rs8170
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.010 < 0.001 1 2012 2012
dbSNP: rs2051579
rs2051579
1 1.000 22 35835310 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs250108
rs250108
2 0.925 5 142614908 intron variant G/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs2981582
rs2981582
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs6788895
rs6788895
3 0.882 0.080 3 150750021 intron variant G/T snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs2016347
rs2016347
9 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4849887
rs4849887
7 0.807 0.080 2 120487546 intergenic variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs6828523
rs6828523
4 0.851 0.080 4 174925275 intron variant C/A snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs700518
rs700518
13 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 0.020 1.000 2 2013 2015
dbSNP: rs865686
rs865686
4 0.851 0.080 9 108126198 regulatory region variant G/A;T snv 0.020 1.000 2 2012 2015
dbSNP: rs370815401
rs370815401
1 1.000 4 68537650 missense variant G/C;T snv 1.5E-05 2.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs4148269
rs4148269
3 0.882 0.080 4 68647129 missense variant T/G snv 0.55 0.49 0.010 1.000 1 2015 2015