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: rs17246404
rs17246404
2 0.925 0.120 7 124822607 3 prime UTR variant C/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs143635917
rs143635917
1 1.000 0.120 7 124842843 missense variant T/C snv 4.5E-04 4.1E-04 0.010 1.000 1 2016 2016