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: rs121912882
rs121912882
4 0.851 0.280 12 47979534 missense variant G/A snv 0.800 1.000 1 1998 1998
dbSNP: rs121912874
rs121912874
14 0.716 0.400 12 47978329 missense variant G/A snv 0.700 0
dbSNP: rs121912893
rs121912893
15 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
dbSNP: rs794727261
rs794727261
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0