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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 1999 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.875 8 1999 2014
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2013 2016
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2013 2016
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.040 1.000 4 2013 2016
dbSNP: rs12203592
rs12203592
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.710 1.000 3 2011 2019
dbSNP: rs267598140
rs267598140
3 0.925 0.080 1 162778600 missense variant T/A;G snv 0.700 1.000 3 2008 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2007 2018
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.030 1.000 3 2011 2014
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2009 2010
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs10491121
rs10491121
5 0.882 0.120 17 36102943 upstream gene variant G/A snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs1057519824
rs1057519824
MET
10 0.807 0.120 7 116783374 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs1057519911
rs1057519911
10 0.776 0.160 22 21772875 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1057520004
rs1057520004
12 0.752 0.240 17 7674884 missense variant A/C;T snv 0.010 1.000 1 1993 1993
dbSNP: rs1057520018
rs1057520018
6 0.807 0.080 19 1223124 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs1057520039
rs1057520039
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1064793400
rs1064793400
1 1.000 0.040 3 37048550 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1064793981
rs1064793981
1 1.000 0.040 2 47475030 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs10759637
rs10759637
2 1.000 0.040 9 113262744 3 prime UTR variant A/C snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs1078305
rs1078305
GSN
1 1.000 0.040 9 121289122 intron variant A/G snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs10810657
rs10810657
7 0.827 0.080 9 16884588 regulatory region variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10817938
rs10817938
5 0.882 0.080 9 97700127 non coding transcript exon variant T/C snv 3.2E-02 0.010 1.000 1 2016 2016