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: rs751689316
rs751689316
4 0.925 0.080 3 169131510 missense variant C/T snv 1.2E-05 0.020 1.000 2 2008 2013