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: rs587777339
rs587777339
2 0.925 0.080 5 37341164 missense variant C/T snv 4.0E-06 0.800 1.000 1 2008 2008