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: rs1555628863
rs1555628863
3 0.925 0.080 18 22172215 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs387906816
rs387906816
4 0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04 0.010 1.000 1 2010 2010