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: rs397514600
rs397514600
1 1.000 16 67174230 missense variant G/C snv 0.700 1.000 2 2012 2014
dbSNP: rs780601409
rs780601409
1 1.000 16 67174407 missense variant G/A snv 2.1E-04 6.3E-05 0.700 0