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: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 1.000 1 2011 2011
dbSNP: rs3102735
rs3102735
12 0.752 0.400 8 118952831 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2011 2011
dbSNP: rs3134070
rs3134070
3 0.882 0.200 8 118952785 upstream gene variant C/T snv 9.6E-02 0.010 < 0.001 1 2011 2011