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: rs1249144069
rs1249144069
5 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016