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: rs2289708
rs2289708
1 1.000 0.040 3 12183853 3 prime UTR variant C/A;G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs2307981
rs2307981
1 1.000 0.040 3 12022928 intron variant -/ACA delins 0.64 0.010 1.000 1 2004 2004
dbSNP: rs2308169
rs2308169
1 1.000 0.040 3 12045603 intron variant ATGCT/-;ATGCTATGCT delins 0.63 0.010 1.000 1 2004 2004
dbSNP: rs308963
rs308963
1 1.000 0.040 3 12140251 intron variant C/A;G snv 0.010 1.000 1 2004 2004
dbSNP: rs3755724
rs3755724
8 0.790 0.360 3 12159406 intron variant C/T snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs795009
rs795009
2 1.000 0.040 3 12167171 intron variant G/T snv 0.72 0.010 1.000 1 2004 2004