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: rs146245480
rs146245480
1 1.000 1 77926863 missense variant C/A;T snv 1.6E-05; 5.4E-04 0.800 1.000 1 2010 2010
dbSNP: rs387907079
rs387907079
1 1.000 1 77918217 missense variant C/G snv 4.0E-06 7.0E-06 0.800 1.000 1 2010 2010