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: rs104893676
rs104893676
1 1.000 0.200 3 43691011 missense variant G/A snv 1.3E-04 8.5E-04 0.800 1.000 4 2001 2008
dbSNP: rs387906336
rs387906336
1 1.000 0.200 3 43691033 frameshift variant AG/- delins 0.700 0