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: rs1243046808
rs1243046808
2 0.925 0.160 6 43770758 missense variant C/G;T snv 2.0E-05; 9.8E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1372503923
rs1372503923
3 0.925 0.160 5 53048731 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1400094618
rs1400094618
MOK
3 0.882 0.240 14 102229508 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1535724
rs1535724
1 1.000 0.120 13 75609137 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1799768
rs1799768
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2015 2015
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs2031236
rs2031236
1 1.000 0.120 13 75595641 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2038823
rs2038823
1 1.000 0.120 13 96299179 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2230774
rs2230774
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2010 2010
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 < 0.001 1 2014 2014
dbSNP: rs2296146
rs2296146
1 1.000 0.120 13 75569436 non coding transcript exon variant T/A;C snv 4.5E-06; 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2328963
rs2328963
1 1.000 0.120 13 75601390 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2514259
rs2514259
AIP
8 0.807 0.280 11 67479201 upstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs281865545
rs281865545
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.010 < 0.001 1 2002 2002
dbSNP: rs3007729
rs3007729
1 1.000 0.120 1 18468761 regulatory region variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs35767
rs35767
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3818569
rs3818569
2 0.925 0.160 1 165419892 synonymous variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs4470583
rs4470583
1 1.000 0.120 4 161329780 intergenic variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs476141
rs476141
1 1.000 0.120 1 244013122 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs6128
rs6128
5 0.851 0.360 1 169593666 synonymous variant C/A;T snv 2.8E-05; 0.24 0.010 1.000 1 2015 2015
dbSNP: rs6562916
rs6562916
1 1.000 0.120 13 75597086 intron variant A/G;T snv 0.700 1.000 1 2013 2013