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: rs11880217
rs11880217
1 1.000 0.080 19 12307980 regulatory region variant C/T snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs17321515
rs17321515
16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs2431820
rs2431820
1 1.000 0.080 19 10024608 downstream gene variant T/C snv 8.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs515135
rs515135
9 0.807 0.160 2 21063185 intergenic variant T/C snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs7259203
rs7259203
1 1.000 0.080 19 8701483 upstream gene variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2003 2003
dbSNP: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.800 1.000 22 1989 2017
dbSNP: rs12713559
rs12713559
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.030 1.000 3 1997 2006
dbSNP: rs144467873
rs144467873
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.700 1.000 2 2012 2016
dbSNP: rs1226992086
rs1226992086
2 0.925 0.080 2 21041055 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs12720762
rs12720762
2 0.925 0.080 2 21043787 intron variant C/G snv 4.8E-03 0.010 1.000 1 2013 2013
dbSNP: rs151009667
rs151009667
2 0.925 0.080 2 21011802 missense variant C/T snv 1.3E-03 1.4E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs200353509
rs200353509
4 0.882 0.120 2 21035701 missense variant G/A;C;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 1998 1998
dbSNP: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2019 2019
dbSNP: rs750158340
rs750158340
1 1.000 0.080 2 21028340 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1060499841
rs1060499841
1 1.000 0.080 2 21043911 frameshift variant A/- del 0.700 0
dbSNP: rs1135402762
rs1135402762
1 1.000 0.080 2 21043907 frameshift variant C/- del 0.700 0
dbSNP: rs1135402764
rs1135402764
1 1.000 0.080 2 21019101 frameshift variant T/- delins 0.700 0
dbSNP: rs1135402765
rs1135402765
1 1.000 0.080 2 21012278 frameshift variant G/- delins 0.700 0
dbSNP: rs1135402766
rs1135402766
1 1.000 0.080 2 21004677 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1339117465
rs1339117465
1 1.000 0.080 2 21002271 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1382988295
rs1382988295
1 1.000 0.080 2 21006686 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1418775778
rs1418775778
1 1.000 0.080 2 21006144 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs142017360
rs142017360
1 1.000 0.080 2 21012217 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1442815965
rs1442815965
1 1.000 0.080 2 21002308 stop gained G/A;T snv 7.0E-06 0.700 0