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: rs151344629
rs151344629
4 0.851 0.200 1 247424492 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs74315289
rs74315289
5 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.010 1.000 1 2003 2003
dbSNP: rs745927136
rs745927136
1 1.000 0.120 1 27102734 missense variant G/A snv 4.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs1553212868
rs1553212868
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs549556142
rs549556142
2 0.925 0.120 1 100484347 stop gained C/A;T snv 1.6E-04; 4.1E-06 0.700 0
dbSNP: rs763320093
rs763320093
1 1.000 0.120 1 165203923 missense variant A/G snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs765379963
rs765379963
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs876661408
rs876661408
2 0.925 0.120 1 100484440 stop gained C/T snv 4.3E-06 0.700 0
dbSNP: rs1135401743
rs1135401743
11 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs794726869
rs794726869
2 0.925 0.120 2 197705955 stop gained C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1558939623
rs1558939623
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs1559320299
rs1559320299
4 0.925 0.160 2 222297043 missense variant T/A snv 0.700 0
dbSNP: rs80356529
rs80356529
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.030 1.000 3 2005 2011
dbSNP: rs11920109
rs11920109
1 1.000 0.120 3 7170999 intron variant T/C snv 0.35 0.010 1.000 1 2020 2020
dbSNP: rs11928865
rs11928865
2 1.000 0.120 3 7114015 intron variant T/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs61736451
rs61736451
1 1.000 0.120 3 10359892 missense variant C/A;T snv 4.0E-06; 1.1E-02 0.010 1.000 1 2005 2005
dbSNP: rs11096955
rs11096955
5 0.851 0.200 4 38774486 missense variant T/C;G snv 4.3E-06; 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1323852277
rs1323852277
2 0.925 0.120 4 6301903 missense variant G/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs142668478
rs142668478
2 0.925 0.120 4 6301849 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs28937893
rs28937893
2 0.925 0.120 4 6301941 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs3774937
rs3774937
9 0.776 0.280 4 102513096 intron variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs387906930
rs387906930
8 0.790 0.360 4 6301846 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs387906931
rs387906931
2 0.925 0.360 4 6302133 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs4648011
rs4648011
1 1.000 0.120 4 102554287 intron variant G/T snv 0.61 0.010 1.000 1 2014 2014