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: rs75023630
rs75023630
1 1.000 0.080 16 23635054 missense variant C/A;T snv 4.8E-04 0.010 1.000 1 2019 2019