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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.882 34 1999 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.857 21 2003 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.100 0.833 12 2003 2014
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.080 1.000 8 2005 2017
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2005 2005
dbSNP: rs762403278
rs762403278
4 0.851 0.200 1 11796244 missense variant T/C;G snv 1.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs778423815
rs778423815
2 0.925 0.120 1 3707661 missense variant C/G snv 4.4E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs121912594
rs121912594
7 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs12676
rs12676
5 0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs3774207
rs3774207
4 0.851 0.160 3 9943972 synonymous variant C/T snv 0.27 0.38 0.010 1.000 1 2012 2012
dbSNP: rs73118372
rs73118372
4 0.851 0.160 3 9943989 missense variant T/C;G snv 2.6E-02; 6.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs749628781
rs749628781
3 0.882 0.160 3 9934538 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs755981922
rs755981922
4 0.851 0.160 3 9943440 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs9878047
rs9878047
4 0.851 0.160 3 9943773 intron variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs1323833193
rs1323833193
EGF
4 0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.100 0.895 19 2000 2017
dbSNP: rs104893904
rs104893904
6 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs1532268
rs1532268
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2013 2013
dbSNP: rs28936670
rs28936670
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs3733890
rs3733890
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2017 2017
dbSNP: rs769233111
rs769233111
3 0.882 0.160 5 173235071 missense variant G/A snv 6.7E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000