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 0.010 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: rs9640699
rs9640699
2 0.925 0.120 7 78366115 intron variant A/C snv 0.58 0.010 1.000 1 2010 2010
dbSNP: rs711
rs711
4 0.851 0.200 21 38823135 3 prime UTR variant A/C;G snv 0.010 1.000 1 2013 2013
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: rs2506004
rs2506004
RET
3 0.882 0.160 10 43086825 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.879 33 1999 2019
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.100 0.889 18 2000 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.100 0.818 11 2003 2014
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.070 1.000 7 2007 2017
dbSNP: rs1465444723
rs1465444723
5 0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs6962966
rs6962966
3 0.925 0.120 7 78174806 intron variant A/G snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs363504
rs363504
3 0.882 0.160 21 29553607 stop gained A/G;T snv 6.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs461155
rs461155
3 0.925 0.120 21 38819714 synonymous variant A/G;T snv 0.72; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1457092
rs1457092
8 0.790 0.320 19 17193427 intron variant C/A snv 0.44 0.010 1.000 1 2010 2010
dbSNP: rs12325817
rs12325817
7 0.807 0.320 17 17583205 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
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: rs587781858
rs587781858
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs771748290
rs771748290
CBS
3 0.882 0.160 21 43072114 missense variant C/A;T snv 8.1E-06; 8.1E-06 0.040 1.000 4 2010 2017
dbSNP: rs2073601
rs2073601
2 0.925 0.120 21 36745007 missense variant C/A;T snv 0.28; 2.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2007 2007
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