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: rs28383481
rs28383481
2 1.000 0.160 5 132393688 missense variant G/A snv 3.2E-03 3.4E-03 0.010 1.000 1 2008 2008
dbSNP: rs386134209
rs386134209
2 1.000 0.160 5 132387039 frameshift variant C/-;CC delins 7.0E-06 0.010 1.000 1 2004 2004