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: rs113560320
rs113560320
3 0.925 0.080 11 61437820 missense variant G/A snv 0.700 1.000 6 2009 2017
dbSNP: rs876658350
rs876658350
1 11 61438090 stop gained G/A snv 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs375280597
rs375280597
1 11 61445939 splice acceptor variant A/G snv 1.2E-05 0.700 0