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: rs775729712
rs775729712
3 0.925 0.040 4 182915501 missense variant G/C snv 0.010 1.000 1 2010 2010
dbSNP: rs9990999
rs9990999
2 0.925 0.040 4 182902820 intron variant G/A snv 0.37 0.010 1.000 1 2015 2015