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: rs121917868
rs121917868
3 0.882 0.160 3 98581474 missense variant T/C snv 4.0E-05 8.4E-05 0.730 1.000 3 1998 2013
dbSNP: rs587777271
rs587777271
1 1.000 0.160 3 98585633 missense variant T/C snv 0.710 1.000 1 2011 2011
dbSNP: rs370245685
rs370245685
1 1.000 0.160 3 98581404 splice region variant T/C snv 2.8E-05 2.1E-05 0.700 0
dbSNP: rs1339270733
rs1339270733
1 1.000 0.160 3 98581483 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2001 2001