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: rs121912469
rs121912469
2 1.000 0.080 5 132489457 missense variant T/A snv 0.700 1.000 3 1998 2014
dbSNP: rs121912470
rs121912470
2 0.925 0.120 5 132489448 missense variant A/G snv 0.700 1.000 2 1998 1999
dbSNP: rs56288038
rs56288038
3 0.925 0.080 5 132483914 3 prime UTR variant G/C snv 2.0E-05 7.0E-06 0.010 1.000 1 2016 2016