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: rs121434246
rs121434246
2 0.925 0.200 2 31533704 missense variant C/T snv 2.3E-05 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs760695410
rs760695410
6 0.807 0.240 10 102832532 missense variant T/A snv 1.2E-05; 4.0E-06 0.010 1.000 1 2000 2000