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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2012 2016
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 < 0.001 2 2006 2013
dbSNP: rs956572
rs956572
11 0.742 0.280 18 63153338 intron variant A/G snv 0.65 0.020 0.500 2 2011 2013
dbSNP: rs1046943
rs1046943
3 1.000 0.040 6 109462738 3 prime UTR variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs11001178
rs11001178
1 1.000 0.040 10 74842047 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11636988
rs11636988
1 1.000 0.040 15 26577667 intron variant G/A snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs11637898
rs11637898
2 0.925 0.040 15 92409620 intron variant G/A snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs11956731
rs11956731
1 1.000 0.040 5 161700816 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs12547858
rs12547858
1 1.000 0.040 8 32629535 intron variant C/T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs13188991
rs13188991
1 1.000 0.040 5 161685998 synonymous variant G/A;C snv 0.19 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1475196
rs1475196
1 1.000 0.040 13 46881488 intron variant A/C snv 1.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs1618355
rs1618355
2 0.925 0.040 21 44406579 intron variant C/A;G snv 0.73; 1.7E-05 0.010 1.000 1 2006 2006
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs17026688
rs17026688
2 1.000 0.040 3 30845325 intron variant C/T snv 9.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs17110566
rs17110566
1 1.000 0.040 12 71972867 intron variant G/A snv 3.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2016 2016
dbSNP: rs1935057
rs1935057
1 1.000 0.040 13 105458997 upstream gene variant G/A snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs2197414
rs2197414
1 1.000 0.040 5 161681878 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2217887
rs2217887
1 1.000 0.040 14 79417482 intron variant T/C snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.010 < 0.001 1 2009 2009
dbSNP: rs2391191
rs2391191
7 0.807 0.080 13 105467097 missense variant G/A snv 0.40 0.32 0.010 1.000 1 2010 2010
dbSNP: rs2619522
rs2619522
6 0.827 0.080 6 15653418 intron variant A/C snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs3757933
rs3757933
1 1.000 0.040 8 32747325 intron variant G/A snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs3815762
rs3815762
1 1.000 0.040 5 170788816 intron variant T/A snv 0.11 0.010 1.000 1 2018 2018