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: rs199473076
rs199473076
3 0.925 0.120 3 38609950 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018