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: rs200215055
rs200215055
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7528947
rs7528947
1 1.000 0.080 1 192366662 3 prime UTR variant A/C;G;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs10204137
rs10204137
2 0.925 0.160 2 102351752 missense variant A/G;T snv 0.34 0.010 1.000 1 2009 2009
dbSNP: rs10208293
rs10208293
4 0.882 0.160 2 102349850 intron variant G/A snv 0.33 0.010 1.000 1 2009 2009
dbSNP: rs13431828
rs13431828
3 0.925 0.160 2 102338193 5 prime UTR variant C/T snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs2160203
rs2160203
2 1.000 0.080 2 102344364 3 prime UTR variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs3810831
rs3810831
1 1.000 0.080 2 86791424 5 prime UTR variant A/G snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs4988957
rs4988957
2 1.000 0.080 2 102351615 missense variant T/C;G snv 0.34; 4.0E-06 0.46 0.010 1.000 1 2009 2009
dbSNP: rs4532099
rs4532099
1 1.000 0.080 3 72266805 intron variant T/C snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.800 0.944 18 1997 2016
dbSNP: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 9 1995 2014
dbSNP: rs28931615
rs28931615
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.700 1.000 7 1995 2013
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.710 0.833 6 1999 2016
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 1.000 6 1995 2015
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 0.833 6 1998 2011
dbSNP: rs28931614
rs28931614
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 1.000 5 1996 2015
dbSNP: rs121913485
rs121913485
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 4 1996 2017
dbSNP: rs28928868
rs28928868
2 0.925 0.120 4 1806164 missense variant G/C;T snv 4.0E-06 0.700 1.000 4 2000 2010
dbSNP: rs121913113
rs121913113
3 0.882 0.240 4 1806076 missense variant G/A snv 0.700 1.000 2 2006 2016
dbSNP: rs373496046
rs373496046
1 1.000 0.080 4 1803761 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2011 2011
dbSNP: rs3804100
rs3804100
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs397515514
rs397515514
2 0.925 0.080 4 1807261 stop lost G/T snv 0.700 0
dbSNP: rs771148519
rs771148519
9 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0