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: rs763222239
rs763222239
0.827 0.040 3 184322862 missense variant G/A snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.020 1.000 2 2013 2015