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: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs749177256
rs749177256
1 1.000 0.080 12 25215538 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018