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: rs952497863
rs952497863
4 0.925 0.080 20 44414511 missense variant C/T snv 0.070 1.000 7 2003 2017
dbSNP: rs1223493898
rs1223493898
5 0.851 0.120 20 44406090 missense variant G/A;C snv 0.050 1.000 5 2005 2012
dbSNP: rs753285226
rs753285226
5 0.882 0.080 20 44406084 missense variant C/A;T snv 4.0E-06 0.020 1.000 2 2008 2016
dbSNP: rs1031647179
rs1031647179
1 1.000 0.080 20 44424278 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1159931590
rs1159931590
1 1.000 0.080 20 44414655 missense variant A/G snv 4.3E-06 0.010 1.000 1 1999 1999
dbSNP: rs148745312
rs148745312
1 1.000 0.080 20 44428431 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs16988991
rs16988991
1 1.000 0.080 20 44361137 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs200985945
rs200985945
2 0.925 0.080 20 44419772 missense variant G/A;T snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs3212198
rs3212198
1 1.000 0.080 20 44415722 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs370239205
rs370239205
3 0.882 0.080 20 44413708 missense variant C/A;T snv 4.0E-05; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs3818247
rs3818247
3 0.925 0.080 20 44428840 intron variant G/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs753056119
rs753056119
1 1.000 0.080 20 44424348 frameshift variant C/- delins 0.010 1.000 1 2019 2019
dbSNP: rs587777732
rs587777732
9 0.763 0.240 20 44406195 missense variant C/T snv 0.700 0
dbSNP: rs1486917678
rs1486917678
1 1.000 0.080 20 44424101 missense variant C/T snv 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs137853337
rs137853337
1 1.000 0.080 20 44428409 missense variant G/A snv 8.0E-06; 8.0E-06 7.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs763010207
rs763010207
3 0.925 0.080 20 44414531 missense variant A/G snv 4.0E-06 1.4E-05 0.020 1.000 2 2000 2001
dbSNP: rs201749293
rs201749293
1 1.000 0.080 20 44414649 missense variant C/T snv 1.7E-04 1.0E-04 0.010 1.000 1 2015 2015
dbSNP: rs1800961
rs1800961
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.720 1.000 4 2010 2019
dbSNP: rs736823
rs736823
1 1.000 0.080 20 44406143 missense variant C/T snv 3.4E-02 3.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs2071197
rs2071197
2 0.925 0.120 20 44401795 intron variant G/A snv 0.11 0.030 1.000 3 2005 2011
dbSNP: rs4812831
rs4812831
1 1.000 0.080 20 44389620 intron variant G/A snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs4810426
rs4810426
1 1.000 0.080 20 44373081 intron variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs1885088
rs1885088
2 1.000 0.080 20 44410400 intron variant G/A snv 0.15 0.020 1.000 2 2009 2017
dbSNP: rs745975
rs745975
2 0.925 0.080 20 44406053 splice region variant C/T snv 0.20 0.18 0.010 1.000 1 2009 2009
dbSNP: rs4812829
rs4812829
3 0.925 0.120 20 44360627 intron variant G/A snv 0.18 0.830 1.000 7 2011 2017