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: rs387906738
rs387906738
3 0.882 0.080 14 101980506 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs587781253
rs587781253
1 1.000 0.080 14 101985925 missense variant G/A snv 4.0E-06 0.700 1.000 1 2014 2014