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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.857 21 2003 2019
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.070 1.000 7 2007 2017
dbSNP: rs368087026
rs368087026
33 0.637 0.520 21 45530890 missense variant G/A snv 0.040 0.750 4 2006 2013
dbSNP: rs10763976
rs10763976
2 0.925 0.120 10 34275364 intron variant G/A snv 0.42 0.010 1.000 1 2010 2010
dbSNP: rs11254
rs11254
2 0.925 0.120 21 38824464 3 prime UTR variant C/T snv 0.34 0.010 1.000 1 2013 2013
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: rs12325817
rs12325817
7 0.807 0.320 17 17583205 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1331959399
rs1331959399
2 0.925 0.120 7 19117256 synonymous variant T/C snv 0.010 1.000 1 2010 2010
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: rs1496770
rs1496770
2 0.925 0.120 7 78629694 intron variant C/T snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs1569686
rs1569686
15 0.752 0.400 20 32779273 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
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: rs199683090
rs199683090
2 0.925 0.120 21 45531476 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs2070531
rs2070531
2 0.925 0.120 21 38822292 intron variant C/T snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs2435357
rs2435357
RET
8 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.010 1.000 1 2012 2012
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: rs562625029
rs562625029
CBS
5 0.827 0.280 21 43058192 stop gained G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 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: rs6962966
rs6962966
3 0.925 0.120 7 78174806 intron variant A/G snv 0.50 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: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs9024
rs9024
3 0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs9640699
rs9640699
2 0.925 0.120 7 78366115 intron variant A/C snv 0.58 0.010 1.000 1 2010 2010