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: rs2187247
rs2187247
1 1.000 0.080 21 42919268 non coding transcript exon variant T/G snv 0.59 0.010 1.000 1 2008 2008
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: rs1215380342
rs1215380342
2 0.925 0.120 21 45531505 missense variant G/A snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1331959399
rs1331959399
2 0.925 0.120 7 19117256 synonymous variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1445106099
rs1445106099
2 0.925 0.120 21 45531596 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
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: 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: rs2073416
rs2073416
2 0.925 0.120 21 36744739 synonymous variant G/A;T snv 0.22 0.010 1.000 1 2011 2011
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: 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: rs9640699
rs9640699
2 0.925 0.120 7 78366115 intron variant A/C snv 0.58 0.010 1.000 1 2010 2010
dbSNP: rs771748290
rs771748290
CBS
3 0.882 0.160 21 43072114 missense variant C/A;T snv 8.1E-06; 8.1E-06 0.050 1.000 5 2005 2017
dbSNP: rs779011920
rs779011920
CBS
3 0.882 0.160 21 43066299 missense variant C/T snv 8.0E-06 0.050 1.000 5 2005 2017
dbSNP: rs142569954
rs142569954
3 0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05 0.010 1.000 1 2003 2003
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: rs363430
rs363430
3 0.882 0.160 21 29598863 synonymous variant G/A snv 0.18 0.17 0.010 1.000 1 2009 2009
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: rs363538
rs363538
3 0.882 0.160 21 29689750 synonymous variant T/A;G snv 0.20 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: rs5349
rs5349
3 0.882 0.160 13 77903530 synonymous variant G/A snv 5.5E-03 1.1E-02 0.010 1.000 1 2003 2003
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: 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: 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