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: rs199538689
rs199538689
2 0.925 0.080 7 144399832 missense variant C/T snv 3.4E-04 2.9E-04 0.010 1.000 1 2007 2007