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: rs200998587
rs200998587
3 0.925 0.080 20 45314116 missense variant C/T snv 1.7E-03 4.0E-04 0.010 1.000 1 2018 2018