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: rs1801394
rs1801394
60 0.577 0.643 5 7870860 missense variant A/G snp 0.47 0.46 0.050 0.800 5 2000 2010
dbSNP: rs1805087
rs1805087
MTR
75 0.538 0.679 1 236885200 missense variant A/G snp 0.20 0.21 0.030 0.667 3 2005 2010
dbSNP: rs1051266
rs1051266
28 0.647 0.500 21 45537880 missense variant T/C,G snp 0.55; 4.4E-06 0.51 0.020 1.000 2 2005 2014
dbSNP: rs1042522
rs1042522
56 0.563 0.643 17 7676154 stop gained G/C,T snp 0.67 0.62 0.010 1.000 1 2018 2018
dbSNP: rs1047891
rs1047891
18 0.923 0.107 2 210675783 missense variant C/A snp 0.30 0.33 0.010 1.000 1 2007 2007
dbSNP: rs121912594
rs121912594
7 0.878 0.143 2 210675762 missense variant A/C snp 0.010 1.000 1 2007 2007
dbSNP: rs121913615
rs121913615
MPL
15 0.734 0.179 1 43349338 missense variant G/C,T snp 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2187247
rs2187247
1 1.000 0.071 21 42919268 non coding transcript exon variant T/G snp 0.59 0.010 1.000 1 2008 2008
dbSNP: rs2435357
rs2435357
RET
3 0.923 0.107 10 43086608 intron variant T/C snp 0.77 0.010 1.000 1 2009 2009
dbSNP: rs373667881
rs373667881
5 0.821 0.143 8 125431222 missense variant G/A,T snp 1.1E-03 4.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.010 1.000 1 2010 2010
dbSNP: rs63750264
rs63750264
APP
19 0.707 0.321 21 25891784 missense variant C/A,G,T snp 0.010 1.000 1 2007 2007
dbSNP: rs745894877
rs745894877
5 0.923 0.107 2 210677057 missense variant A/C snp 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs771748290
rs771748290
CBS
3 0.923 0.107 21 43072114 C/A,T snp 8.1E-06; 8.1E-06 0.010 1.000 1 2005 2005
dbSNP: rs9024
rs9024
1 1.000 0.071 21 36073015 3 prime UTR variant G/A snp 0.10 0.010 1.000 1 2015 2015