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: rs267606870
rs267606870
11 0.763 0.280 15 90088703 missense variant G/A;C snv 0.710 1.000 5 2010 2016
dbSNP: rs28931590
rs28931590
1 1.000 0.040 19 33302164 missense variant T/A snv 0.800 1.000 5 2001 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2006 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.750 4 2006 2013
dbSNP: rs1057519736
rs1057519736
13 0.752 0.160 15 90088605 missense variant C/G snv 0.700 1.000 4 2011 2014
dbSNP: rs11554137
rs11554137
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.040 0.750 4 2010 2018
dbSNP: rs121912472
rs121912472
2 0.925 0.080 9 5073742 missense variant G/C snv 0.810 1.000 4 2006 2019
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 4 2010 2016
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 4 2014 2016
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 4 2014 2016
dbSNP: rs371769427
rs371769427
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.700 1.000 4 2011 2016
dbSNP: rs376588714
rs376588714
1 1.000 0.040 13 28018483 missense variant T/C snv 2.4E-05 1.4E-05 0.710 1.000 4 2005 2014
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 0.750 4 2011 2014
dbSNP: rs104894366
rs104894366
9 0.776 0.400 12 25245284 missense variant G/A;C snv 0.700 1.000 3 2006 2014
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 3 2014 2014
dbSNP: rs1057519749
rs1057519749
1 1.000 0.040 21 34880579 missense variant C/A;G snv 0.700 1.000 3 2014 2014
dbSNP: rs1057519762
rs1057519762
1 1.000 0.040 13 28018484 missense variant A/G snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519765
rs1057519765
1 1.000 0.040 13 28027236 missense variant T/A;C snv 4.0E-06 0.700 1.000 3 2012 2014
dbSNP: rs1057519766
rs1057519766
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.720 1.000 3 2013 2016
dbSNP: rs1057519767
rs1057519767
1 1.000 0.040 13 28028205 missense variant T/C snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519768
rs1057519768
1 1.000 0.040 13 28028279 missense variant T/C snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519769
rs1057519769
1 1.000 0.040 13 28033974 missense variant C/A snv 0.700 1.000 3 2012 2014
dbSNP: rs121912666
rs121912666
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 1.000 3 2014 2014
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 2001 2005
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2009 2015