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: rs104894402
rs104894402
5 0.882 0.200 13 20189359 missense variant G/A;C snv 0.720 1.000 2 2000 2001
dbSNP: rs121909057
rs121909057
2 1.000 0.120 5 146340095 missense variant T/C snv 0.020 1.000 2 2008 2009
dbSNP: rs28931593
rs28931593
9 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.020 1.000 2 2002 2014
dbSNP: rs457717
rs457717
1 5 76625147 intron variant A/G snv 0.65 0.810 1.000 2 2010 2016
dbSNP: rs1060501002
rs1060501002
2 1.000 0.080 X 71223772 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs113288603
rs113288603
1 19 40856388 intron variant C/T snv 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs116840819
rs116840819
4 0.882 0.240 X 71223930 missense variant C/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs1172585670
rs1172585670
1 3 121993482 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1176235580
rs1176235580
3 0.925 0.120 6 73482214 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs11928865
rs11928865
2 1.000 0.120 3 7114015 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs121908072
rs121908072
2 1.000 0.120 9 72816161 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs1476034902
rs1476034902
1 13 20189542 missense variant T/C snv 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1554958045
rs1554958045
3 1.000 0.080 11 2445213 stop gained G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs281875330
rs281875330
2 1.000 0.120 17 81511626 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs2839580
rs2839580
1 21 42736981 intron variant T/A;G snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs28937583
rs28937583
3 0.925 0.080 1 34784863 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs28937872
rs28937872
5 0.851 0.200 13 20223218 missense variant G/A snv 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: rs387907015
rs387907015
2 1.000 0.120 3 121993614 stop gained C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs4668123
rs4668123
6 0.851 0.280 2 169196995 missense variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs587781262
rs587781262
6 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263
5 0.925 0.240 X 107650000 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs6132107
rs6132107
1 20 18726094 intron variant A/G snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs74315205
rs74315205
7 0.807 0.360 4 6302385 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs748345812
rs748345812
1 3 69879304 missense variant T/G snv 0.010 1.000 1 2019 2019