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: rs1250394819
rs1250394819
9 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1483790387
rs1483790387
2 0.925 0.120 5 115625762 missense variant C/A snv 0.010 1.000 1 2014 2014