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: rs1887922
rs1887922
IDE
6 0.851 0.240 10 92464408 intron variant C/T snv 0.85 0.020 1.000 2 2011 2012
dbSNP: rs2251101
rs2251101
IDE
3 0.882 0.160 10 92451547 downstream gene variant C/A;T snv 0.020 0.500 2 2011 2015
dbSNP: rs4646953
rs4646953
IDE
3 0.882 0.160 10 92574198 upstream gene variant A/G snv 0.17 0.020 0.500 2 2011 2015
dbSNP: rs1219680453
rs1219680453
IDE
1 1.000 0.080 10 92573955 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1484303631
rs1484303631
IDE
1 1.000 0.080 10 92573999 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1832196
rs1832196
IDE
1 1.000 0.080 10 92508577 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3758505
rs3758505
IDE
1 1.000 0.080 10 92575021 upstream gene variant A/C;G snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs3781239
rs3781239
IDE
1 1.000 0.080 10 92458040 intron variant C/G snv 7.5E-03 0.010 1.000 1 2012 2012
dbSNP: rs4646958
rs4646958
IDE
1 1.000 0.080 10 92454602 intron variant T/A snv 9.6E-02 0.010 1.000 1 2012 2012