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: rs4072037
rs4072037
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.800 1.000 20 2010 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.833 12 2005 2014
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 1.000 11 2007 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.900 10 2009 2015
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.090 0.778 9 2011 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 2009 2015
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 0.875 8 2011 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.875 8 2009 2015
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.070 1.000 7 2008 2015
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.060 0.667 6 2002 2016
dbSNP: rs3212986
rs3212986
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.060 0.833 6 2015 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.750 4 2008 2017
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 4 1987 2004
dbSNP: rs2292832
rs2292832
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.040 0.750 4 2014 2018
dbSNP: rs104894361
rs104894361
3 0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 3 1987 2003
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.030 1.000 3 2009 2013
dbSNP: rs121908382
rs121908382
2 1.000 0.080 1 45331530 missense variant G/A snv 0.700 1.000 3 2004 2015
dbSNP: rs121908383
rs121908383
2 1.000 0.080 1 45331502 missense variant T/C snv 0.700 1.000 3 2004 2015
dbSNP: rs121912469
rs121912469
2 1.000 0.080 5 132489457 missense variant T/A snv 0.700 1.000 3 1998 2014
dbSNP: rs121913528
rs121913528
12 0.851 0.160 12 25227349 missense variant C/A;T snv 0.700 1.000 3 1987 2003
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 1.000 3 1987 2003
dbSNP: rs13420827
rs13420827
4 0.882 0.160 2 25231099 3 prime UTR variant C/G;T snv 0.030 1.000 3 2012 2018
dbSNP: rs6458238
rs6458238
PGC
4 0.882 0.080 6 41749967 intron variant G/A;C snv 0.030 1.000 3 2013 2016
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.030 1.000 3 2010 2018
dbSNP: rs9841504
rs9841504
7 0.827 0.120 3 114643917 intron variant C/G;T snv 0.720 0.667 3 2011 2016