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: rs12122100
rs12122100
4 1.000 1 147037378 intron variant T/C snv 0.76 0.800 1.000 1 2009 2009
dbSNP: rs12274302
rs12274302
4 1.000 11 90853732 non coding transcript exon variant C/A;G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs13394720
rs13394720
6 1.000 2 233593475 intergenic variant T/C snv 7.0E-02 0.800 1.000 1 2009 2009
dbSNP: rs16914280
rs16914280
4 1.000 11 88588556 intron variant C/T snv 4.7E-02 0.800 1.000 1 2009 2009
dbSNP: rs16948255
rs16948255
4 1.000 16 74847922 downstream gene variant C/T snv 3.9E-02 0.800 1.000 1 2009 2009
dbSNP: rs17291045
rs17291045
4 1.000 4 160585745 intron variant C/T snv 9.3E-02 0.800 1.000 1 2009 2009
dbSNP: rs17324272
rs17324272
4 1.000 X 133003128 intergenic variant T/C snv 3.2E-03 0.800 1.000 1 2009 2009
dbSNP: rs1777672
rs1777672
4 1.000 13 35603682 intron variant G/A snv 0.94 0.800 1.000 1 2009 2009
dbSNP: rs2255221
rs2255221
4 1.000 6 31463914 non coding transcript exon variant G/T snv 6.9E-02 0.10 0.800 1.000 1 2010 2010
dbSNP: rs2523590
rs2523590
4 1.000 6 31359287 upstream gene variant T/C snv 0.25 0.800 1.000 1 2010 2010
dbSNP: rs259919
rs259919
6 0.882 0.080 6 30057726 intron variant G/A snv 0.25 0.800 1.000 1 2009 2009
dbSNP: rs3131018
rs3131018
4 1.000 6 31175805 intron variant A/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs38152
rs38152
4 1.000 7 20007952 intron variant A/C snv 6.2E-02 0.800 1.000 1 2009 2009
dbSNP: rs6751715
rs6751715
4 1.000 2 56136242 intron variant T/C snv 0.39 0.800 1.000 1 2009 2009
dbSNP: rs7756521
rs7756521
5 1.000 6 30880476 intron variant T/C snv 0.25 0.800 1.000 1 2009 2009
dbSNP: rs7758512
rs7758512
4 1.000 6 30002812 intron variant T/G snv 0.17 0.800 1.000 1 2009 2009
dbSNP: rs8013190
rs8013190
4 1.000 14 57888330 intron variant A/G snv 3.9E-02 0.800 1.000 1 2009 2009
dbSNP: rs9262632
rs9262632
4 1.000 6 31057031 intron variant A/G snv 6.3E-02 0.800 1.000 1 2010 2010
dbSNP: rs9367630
rs9367630
4 1.000 6 55283305 downstream gene variant G/A snv 3.2E-02 0.800 1.000 1 2009 2009
dbSNP: rs9468692
rs9468692
4 1.000 6 30152113 3 prime UTR variant G/A;C;T snv 0.800 1.000 1 2009 2009
dbSNP: rs9497975
rs9497975
4 1.000 6 148226666 regulatory region variant G/A snv 3.1E-02 0.800 1.000 1 2009 2009
dbSNP: rs10039039
rs10039039
5 1.000 5 170487960 intron variant C/T snv 8.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs1005585
rs1005585
CBS
5 1.000 21 43056923 intron variant T/C snv 6.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs10173355
rs10173355
6 1.000 2 233688675 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10182825
rs10182825
5 1.000 2 28788221 intron variant G/A snv 9.0E-02 0.700 1.000 1 2019 2019