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: rs121912765
rs121912765
2 0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06 0.800 1.000 1 2008 2008
dbSNP: rs387906597
rs387906597
4 0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06 0.700 0