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: rs201768983
rs201768983
2 0.925 0.080 3 195868640 missense variant C/T snv 1.2E-04 3.5E-05 0.010 1.000 1 2014 2014