Source: ALL
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: rs149889416
rs149889416
3 0.882 0.160 1 21577436 missense variant G/A snv 4.5E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs786204530
rs786204530
4 0.851 0.160 1 21563212 missense variant AC/CA mnv 0.010 1.000 1 2015 2015