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: rs17632542
rs17632542
5 0.925 0.080 19 50858501 missense variant T/C snv 5.5E-02 4.9E-02 0.750 0.714 7 2011 2015
dbSNP: rs62113212
rs62113212
2 0.925 0.080 19 50857584 non coding transcript exon variant C/G;T snv 0.710 0.500 2 2011 2015
dbSNP: rs266882
rs266882
4 0.925 0.080 19 50854757 upstream gene variant G/A snv 0.49 0.050 0.800 5 2006 2018
dbSNP: rs149709822
rs149709822
4 0.882 0.080 19 50856335 missense variant G/A snv 4.0E-05 2.3E-04 0.040 0.500 4 2001 2008
dbSNP: rs1058205
rs1058205
3 0.925 0.080 19 50860142 3 prime UTR variant C/T snv 0.75 0.74 0.020 1.000 2 2017 2018
dbSNP: rs61752561
rs61752561
3 0.925 0.080 19 50858126 missense variant G/A snv 2.4E-02 2.5E-02 0.020 1.000 2 2010 2019
dbSNP: rs746367915
rs746367915
2 0.925 0.080 19 50860089 missense variant C/T snv 8.0E-06 2.8E-05 0.020 1.000 2 2005 2010
dbSNP: rs1192131078
rs1192131078
2 0.925 0.080 19 50858075 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs141576693
rs141576693
2 0.925 0.080 19 50856263 missense variant C/T snv 8.0E-05 2.8E-04 0.010 1.000 1 2013 2013
dbSNP: rs1450063773
rs1450063773
3 0.925 0.080 19 50858491 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs369223448
rs369223448
2 0.925 0.080 19 50856347 missense variant G/A snv 3.6E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs538660698
rs538660698
3 0.882 0.200 19 50860077 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs62113214
rs62113214
2 0.925 0.080 19 50859281 intron variant T/G snv 4.9E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs765521022
rs765521022
4 0.851 0.080 19 50858171 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs781327047
rs781327047
2 0.925 0.080 19 50856344 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016