Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs55916807
rs55916807
0.925 0.080 17 16948968 missense variant C/T snv 2.0E-03 2.6E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2007 2007